Canonical Allele Identifier: CA123688

Gene: MATR3

Linked Data

• ClinVar Variation Id: 14002
• ClinVar RCV Id: RCV000015039 ; RCV000517083
• dbSNP Id: rs121434591
• MyVariant Identifiers: chr5:g.138643358C>G (hg19) ; chr5:g.139307669C>G (hg38)
• PubMed: PMID:9837826 ; PMID:19344878 ; PMID:24686783 ; PMID:25154462 ; PMID:25185957 ; PMID:25677933 ; PMID:25952333 ; PMID:26493020 ; PMID:26528920 ; PMID:26780671

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139307669C>G , CM000667.2:g.139307669C>G	GRCh38
NC_000005.9:g.138643358C>G , CM000667.1:g.138643358C>G	GRCh37
NC_000005.8:g.138671257C>G	NCBI36
NG_012846.1:g.38567C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394805.8:c.254C>G MANE Select	ENSP00000378284.3:p.Ser85Cys
ENST00000618441.5:c.254C>G	ENSP00000482895.1:p.Ser85Cys
ENST00000361059.7:c.254C>G	ENSP00000354346.4:p.Ser85Cys
ENST00000394800.6:c.254C>G	ENSP00000378279.2:p.Ser85Cys
ENST00000394805.7:c.254C>G	ENSP00000378284.3:p.Ser85Cys
ENST00000502394.1:c.254C>G	ENSP00000427168.1:p.Ser85Cys
ENST00000502499.5:c.-40-8028C>G	ENSP00000426030.1:n.-40-8028C>G
ENST00000502929.5:c.254C>G	ENSP00000422319.1:p.Ser85Cys
ENST00000503340.1:c.254C>G	ENSP00000422590.1:p.Ser85Cys
ENST00000503811.5:c.49-7006C>G	ENSP00000423587.1:n.49-7006C>G
ENST00000504045.5:c.254C>G	ENSP00000423290.1:p.Ser85Cys
ENST00000504203.5:c.-102-7006C>G	ENSP00000421218.1:n.-102-7006C>G
ENST00000504311.5:c.-40-8028C>G	ENSP00000422700.1:n.-40-8028C>G
ENST00000504643.5:n.47-7006C>G
ENST00000506147.5:c.13-7006C>G	ENSP00000423521.1:n.13-7006C>G
ENST00000507860.1:n.32-7006C>G
ENST00000509644.5:c.-102-7006C>G	ENSP00000421666.1:n.-102-7006C>G
ENST00000509918.5:n.64-7006C>G
ENST00000509990.5:c.254C>G	ENSP00000423533.1:p.Ser85Cys
ENST00000510056.5:c.254C>G	ENSP00000426743.1:p.Ser85Cys
ENST00000511249.5:c.-13-9938C>G	ENSP00000422649.1:n.-13-9938C>G
ENST00000511978.5:n.57-7006C>G
ENST00000512107.5:c.-40-8028C>G	ENSP00000423695.1:n.-40-8028C>G
ENST00000512876.5:c.-102-7006C>G	ENSP00000425150.1:n.-102-7006C>G
ENST00000513121.1:n.91-7006C>G
ENST00000513678.5:c.-60-7006C>G	ENSP00000424646.1:n.-60-7006C>G
ENST00000514488.1:c.254C>G	ENSP00000426801.1:p.Ser85Cys
ENST00000514528.5:c.121-7006C>G	ENSP00000427557.1:n.121-7006C>G
ENST00000514694.5:c.254C>G	ENSP00000422233.1:p.Ser85Cys
ENST00000618441.4:c.254C>G	ENSP00000482895.1:p.Ser85Cys
ENST00000620916.2:c.113+141C>G	ENSP00000480093.1:n.113+141C>G
NM_001194954.1:c.254C>G	NP_001181883.1:p.Ser85Cys
NM_001194955.1:c.254C>G	NP_001181884.1:p.Ser85Cys
NM_001194956.1:c.49-7006C>G	NP_001181885.1:n.49-7006C>G
NM_001282278.1:c.-102-7006C>G	NP_001269207.1:n.-102-7006C>G
NM_018834.5:c.254C>G	NP_061322.2:p.Ser85Cys
NM_199189.2:c.254C>G	NP_954659.1:p.Ser85Cys
NM_018834.6:c.254C>G MANE Select	NP_061322.2:p.Ser85Cys
NM_001194954.2:c.254C>G	NP_001181883.1:p.Ser85Cys
NM_001194955.2:c.254C>G	NP_001181884.1:p.Ser85Cys
NM_001194956.2:c.49-7006C>G	NP_001181885.1:n.49-7006C>G
NM_001282278.2:c.-102-7006C>G	NP_001269207.1:n.-102-7006C>G
NM_199189.3:c.254C>G	NP_954659.1:p.Ser85Cys
NM_001400441.1:c.254C>G	NP_001387370.1:p.Ser85Cys
NM_001400442.1:c.254C>G	NP_001387371.1:p.Ser85Cys
NM_001400443.1:c.254C>G	NP_001387372.1:p.Ser85Cys
NM_001400444.1:c.254C>G	NP_001387373.1:p.Ser85Cys
NM_001400445.1:c.254C>G	NP_001387374.1:p.Ser85Cys
NM_001400447.1:c.254C>G	NP_001387376.1:p.Ser85Cys
NM_001400448.1:c.254C>G	NP_001387377.1:p.Ser85Cys
NM_001400450.1:c.254C>G	NP_001387379.1:p.Ser85Cys
NM_001400451.1:c.254C>G	NP_001387380.1:p.Ser85Cys
NM_001400452.1:c.254C>G	NP_001387381.1:p.Ser85Cys
NM_001400453.1:c.254C>G	NP_001387382.1:p.Ser85Cys
NM_001400454.1:c.254C>G	NP_001387383.1:p.Ser85Cys
NM_001400455.1:c.254C>G	NP_001387384.1:p.Ser85Cys
NM_001400456.1:c.254C>G	NP_001387385.1:p.Ser85Cys
NM_001400457.1:c.254C>G	NP_001387386.1:p.Ser85Cys
NM_001400458.1:c.254C>G	NP_001387387.1:p.Ser85Cys
NM_001400459.1:c.52-7006C>G	NP_001387388.1:n.52-7006C>G
NM_001400460.1:c.-102-7006C>G	NP_001387389.1:n.-102-7006C>G
NM_001400461.1:c.13-7006C>G	NP_001387390.1:n.13-7006C>G
NM_001400462.1:c.-40-8028C>G	NP_001387391.1:n.-40-8028C>G
NM_001400463.1:c.-102-7006C>G	NP_001387392.1:n.-102-7006C>G
NM_001400464.1:c.-102-7006C>G	NP_001387393.1:n.-102-7006C>G
NM_001400465.1:c.-102-7006C>G	NP_001387394.1:n.-102-7006C>G
NM_001400466.1:c.-102-7006C>G	NP_001387395.1:n.-102-7006C>G
NM_001400467.1:c.-40-8028C>G	NP_001387396.1:n.-40-8028C>G