Canonical Allele Identifier: CA361146354

Gene: MATR3

Linked Data

• gnomAD v4: 5-139325545-G-T
• MyVariant Identifiers: chr5:g.138661234G>T (hg19) ; chr5:g.139325545G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139325545G>T , CM000667.2:g.139325545G>T	GRCh38
NC_000005.9:g.138661234G>T , CM000667.1:g.138661234G>T	GRCh37
NC_000005.8:g.138689133G>T	NCBI36
NG_012846.1:g.56443G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394805.8:c.2254G>T MANE Select	ENSP00000378284.3:p.Asp752Tyr
ENST00000618441.5:c.2254G>T	ENSP00000482895.1:p.Asp752Tyr
ENST00000361059.7:c.2254G>T	ENSP00000354346.4:p.Asp752Tyr
ENST00000394800.6:c.2398G>T	ENSP00000378279.2:p.Asp800Tyr
ENST00000394805.7:c.2254G>T	ENSP00000378284.3:p.Asp752Tyr
ENST00000502422.5:n.1707G>T
ENST00000502499.5:c.1240G>T	ENSP00000426030.1:p.Asp414Tyr
ENST00000502929.5:c.2398G>T	ENSP00000422319.1:p.Asp800Tyr
ENST00000503811.5:c.1390G>T	ENSP00000423587.1:p.Asp464Tyr
ENST00000504203.5:c.1240G>T	ENSP00000421218.1:p.Asp414Tyr
ENST00000505625.5:n.5974G>T
ENST00000509990.5:c.2254G>T	ENSP00000423533.1:p.Asp752Tyr
ENST00000510056.5:c.2254G>T	ENSP00000426743.1:p.Asp752Tyr
ENST00000512040.1:n.432G>T
ENST00000618441.4:c.2254G>T	ENSP00000482895.1:p.Asp752Tyr
ENST00000620916.2:c.562G>T	ENSP00000480093.1:p.Asp188Tyr
NM_001194954.1:c.2254G>T	NP_001181883.1:p.Asp752Tyr
NM_001194955.1:c.2254G>T	NP_001181884.1:p.Asp752Tyr
NM_001194956.1:c.1390G>T	NP_001181885.1:p.Asp464Tyr
NM_001282278.1:c.1240G>T	NP_001269207.1:p.Asp414Tyr
NM_018834.5:c.2254G>T	NP_061322.2:p.Asp752Tyr
NM_199189.2:c.2254G>T	NP_954659.1:p.Asp752Tyr
NM_018834.6:c.2254G>T MANE Select	NP_061322.2:p.Asp752Tyr
NM_001194954.2:c.2254G>T	NP_001181883.1:p.Asp752Tyr
NM_001194955.2:c.2254G>T	NP_001181884.1:p.Asp752Tyr
NM_001194956.2:c.1390G>T	NP_001181885.1:p.Asp464Tyr
NM_001282278.2:c.1240G>T	NP_001269207.1:p.Asp414Tyr
NM_199189.3:c.2254G>T	NP_954659.1:p.Asp752Tyr
NM_001400441.1:c.2398G>T	NP_001387370.1:p.Asp800Tyr
NM_001400442.1:c.2398G>T	NP_001387371.1:p.Asp800Tyr
NM_001400443.1:c.2398G>T	NP_001387372.1:p.Asp800Tyr
NM_001400444.1:c.2398G>T	NP_001387373.1:p.Asp800Tyr
NM_001400445.1:c.2398G>T	NP_001387374.1:p.Asp800Tyr
NM_001400447.1:c.2254G>T	NP_001387376.1:p.Asp752Tyr
NM_001400448.1:c.2254G>T	NP_001387377.1:p.Asp752Tyr
NM_001400450.1:c.2254G>T	NP_001387379.1:p.Asp752Tyr
NM_001400451.1:c.2254G>T	NP_001387380.1:p.Asp752Tyr
NM_001400452.1:c.2254G>T	NP_001387381.1:p.Asp752Tyr
NM_001400453.1:c.2254G>T	NP_001387382.1:p.Asp752Tyr
NM_001400454.1:c.2254G>T	NP_001387383.1:p.Asp752Tyr
NM_001400455.1:c.2254G>T	NP_001387384.1:p.Asp752Tyr
NM_001400456.1:c.2254G>T	NP_001387385.1:p.Asp752Tyr
NM_001400457.1:c.2254G>T	NP_001387386.1:p.Asp752Tyr
NM_001400458.1:c.2254G>T	NP_001387387.1:p.Asp752Tyr
NM_001400459.1:c.1393G>T	NP_001387388.1:p.Asp465Tyr
NM_001400460.1:c.1384G>T	NP_001387389.1:p.Asp462Tyr
NM_001400461.1:c.1354G>T	NP_001387390.1:p.Asp452Tyr
NM_001400462.1:c.1240G>T	NP_001387391.1:p.Asp414Tyr
NM_001400463.1:c.1240G>T	NP_001387392.1:p.Asp414Tyr
NM_001400464.1:c.1240G>T	NP_001387393.1:p.Asp414Tyr
NM_001400465.1:c.1240G>T	NP_001387394.1:p.Asp414Tyr
NM_001400466.1:c.1240G>T	NP_001387395.1:p.Asp414Tyr
NM_001400467.1:c.1240G>T	NP_001387396.1:p.Asp414Tyr