Canonical Allele Identifier: CA377360632

Gene: MAT1A

Linked Data

• gnomAD v4: 10-80275064-C-A
• MyVariant Identifiers: chr10:g.82034820C>A (hg19) ; chr10:g.80275064C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80275064C>A , CM000672.2:g.80275064C>A	GRCh38
NC_000010.10:g.82034820C>A , CM000672.1:g.82034820C>A	GRCh37
NC_000010.9:g.82024800C>A	NCBI36
NG_008083.1:g.19615G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.904G>T MANE Select	ENSP00000361287.3:p.Ala302Ser
ENST00000372213.7:c.904G>T	ENSP00000361287.3:p.Ala302Ser
ENST00000480845.1:n.136G>T
ENST00000485270.5:n.416G>T
NM_000429.2:c.904G>T	NP_000420.1:p.Ala302Ser
XM_005269842.3:c.904G>T	XP_005269899.1:p.Ala302Ser
XM_005269843.3:c.781G>T	XP_005269900.1:p.Ala261Ser
NM_000429.3:c.904G>T MANE Select	NP_000420.1:p.Ala302Ser