Canonical Allele Identifier: CA5576773

Gene: MAT1A

Linked Data

• ClinVar Variation Id: 426944
• ClinVar RCV Id: RCV000489288 ; RCV000634908 ; RCV003409676
• dbSNP Id: rs376757912
• ExAC: 10:82039949 G / A
• gnomAD v2: 10-82039949-G-A
• gnomAD v3: 10-80280193-G-A
• gnomAD v4: 10-80280193-G-A
• MyVariant Identifiers: chr10:g.82039949G>A (hg19) ; chr10:g.80280193G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80280193G>A , CM000672.2:g.80280193G>A	GRCh38
NC_000010.10:g.82039949G>A , CM000672.1:g.82039949G>A	GRCh37
NC_000010.9:g.82029929G>A	NCBI36
NG_008083.1:g.14486C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372213.8:c.529C>T MANE Select	ENSP00000361287.3:p.Arg177Trp
ENST00000372213.7:c.529C>T	ENSP00000361287.3:p.Arg177Trp
ENST00000455001.1:c.340C>T	ENSP00000414961.1:p.Arg114Trp
NM_000429.2:c.529C>T	NP_000420.1:p.Arg177Trp
XM_005269842.3:c.529C>T	XP_005269899.1:p.Arg177Trp
XM_005269843.3:c.406C>T	XP_005269900.1:p.Arg136Trp
NM_000429.3:c.529C>T MANE Select	NP_000420.1:p.Arg177Trp