Canonical Allele Identifier: CA3433400

Gene: MATR3

Linked Data

• ClinVar Variation Id: 1196920
• ClinVar RCV Id: RCV001560577 ; RCV001865974 ; RCV003399369
• dbSNP Id: rs774158046
• ExAC: 5:138661231 G / A
• gnomAD v2: 5-138661231-G-A
• gnomAD v3: 5-139325542-G-A
• gnomAD v4: 5-139325542-G-A
• MyVariant Identifiers: chr5:g.138661231G>A (hg19) ; chr5:g.139325542G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139325542G>A , CM000667.2:g.139325542G>A	GRCh38
NC_000005.9:g.138661231G>A , CM000667.1:g.138661231G>A	GRCh37
NC_000005.8:g.138689130G>A	NCBI36
NG_012846.1:g.56440G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000394805.8:c.2251G>A MANE Select	ENSP00000378284.3:p.Ala751Thr
ENST00000618441.5:c.2251G>A	ENSP00000482895.1:p.Ala751Thr
ENST00000361059.7:c.2251G>A	ENSP00000354346.4:p.Ala751Thr
ENST00000394800.6:c.2395G>A	ENSP00000378279.2:p.Ala799Thr
ENST00000394805.7:c.2251G>A	ENSP00000378284.3:p.Ala751Thr
ENST00000502422.5:n.1704G>A
ENST00000502499.5:c.1237G>A	ENSP00000426030.1:p.Ala413Thr
ENST00000502929.5:c.2395G>A	ENSP00000422319.1:p.Ala799Thr
ENST00000503811.5:c.1387G>A	ENSP00000423587.1:p.Ala463Thr
ENST00000504203.5:c.1237G>A	ENSP00000421218.1:p.Ala413Thr
ENST00000505625.5:n.5971G>A
ENST00000509990.5:c.2251G>A	ENSP00000423533.1:p.Ala751Thr
ENST00000510056.5:c.2251G>A	ENSP00000426743.1:p.Ala751Thr
ENST00000512040.1:n.429G>A
ENST00000618441.4:c.2251G>A	ENSP00000482895.1:p.Ala751Thr
ENST00000620916.2:c.559G>A	ENSP00000480093.1:p.Ala187Thr
NM_001194954.1:c.2251G>A	NP_001181883.1:p.Ala751Thr
NM_001194955.1:c.2251G>A	NP_001181884.1:p.Ala751Thr
NM_001194956.1:c.1387G>A	NP_001181885.1:p.Ala463Thr
NM_001282278.1:c.1237G>A	NP_001269207.1:p.Ala413Thr
NM_018834.5:c.2251G>A	NP_061322.2:p.Ala751Thr
NM_199189.2:c.2251G>A	NP_954659.1:p.Ala751Thr
NM_018834.6:c.2251G>A MANE Select	NP_061322.2:p.Ala751Thr
NM_001194954.2:c.2251G>A	NP_001181883.1:p.Ala751Thr
NM_001194955.2:c.2251G>A	NP_001181884.1:p.Ala751Thr
NM_001194956.2:c.1387G>A	NP_001181885.1:p.Ala463Thr
NM_001282278.2:c.1237G>A	NP_001269207.1:p.Ala413Thr
NM_199189.3:c.2251G>A	NP_954659.1:p.Ala751Thr
NM_001400441.1:c.2395G>A	NP_001387370.1:p.Ala799Thr
NM_001400442.1:c.2395G>A	NP_001387371.1:p.Ala799Thr
NM_001400443.1:c.2395G>A	NP_001387372.1:p.Ala799Thr
NM_001400444.1:c.2395G>A	NP_001387373.1:p.Ala799Thr
NM_001400445.1:c.2395G>A	NP_001387374.1:p.Ala799Thr
NM_001400447.1:c.2251G>A	NP_001387376.1:p.Ala751Thr
NM_001400448.1:c.2251G>A	NP_001387377.1:p.Ala751Thr
NM_001400450.1:c.2251G>A	NP_001387379.1:p.Ala751Thr
NM_001400451.1:c.2251G>A	NP_001387380.1:p.Ala751Thr
NM_001400452.1:c.2251G>A	NP_001387381.1:p.Ala751Thr
NM_001400453.1:c.2251G>A	NP_001387382.1:p.Ala751Thr
NM_001400454.1:c.2251G>A	NP_001387383.1:p.Ala751Thr
NM_001400455.1:c.2251G>A	NP_001387384.1:p.Ala751Thr
NM_001400456.1:c.2251G>A	NP_001387385.1:p.Ala751Thr
NM_001400457.1:c.2251G>A	NP_001387386.1:p.Ala751Thr
NM_001400458.1:c.2251G>A	NP_001387387.1:p.Ala751Thr
NM_001400459.1:c.1390G>A	NP_001387388.1:p.Ala464Thr
NM_001400460.1:c.1381G>A	NP_001387389.1:p.Ala461Thr
NM_001400461.1:c.1351G>A	NP_001387390.1:p.Ala451Thr
NM_001400462.1:c.1237G>A	NP_001387391.1:p.Ala413Thr
NM_001400463.1:c.1237G>A	NP_001387392.1:p.Ala413Thr
NM_001400464.1:c.1237G>A	NP_001387393.1:p.Ala413Thr
NM_001400465.1:c.1237G>A	NP_001387394.1:p.Ala413Thr
NM_001400466.1:c.1237G>A	NP_001387395.1:p.Ala413Thr
NM_001400467.1:c.1237G>A	NP_001387396.1:p.Ala413Thr