Canonical Allele Identifier: CA377360354

Gene: MAT1A

Linked Data

• MyVariant Identifiers: chr10:g.82034322C>T (hg19) ; chr10:g.80274566C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80274566C>T , CM000672.2:g.80274566C>T	GRCh38
NC_000010.10:g.82034322C>T , CM000672.1:g.82034322C>T	GRCh37
NC_000010.9:g.82024302C>T	NCBI36
NG_008083.1:g.20113G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.1039G>A MANE Select	ENSP00000361287.3:p.Asp347Asn
ENST00000372213.7:c.1039G>A	ENSP00000361287.3:p.Asp347Asn
ENST00000480845.1:n.271G>A
ENST00000485270.5:n.551G>A
NM_000429.2:c.1039G>A	NP_000420.1:p.Asp347Asn
XM_005269842.3:c.1039G>A	XP_005269899.1:p.Asp347Asn
XM_005269843.3:c.916G>A	XP_005269900.1:p.Asp306Asn
NM_000429.3:c.1039G>A MANE Select	NP_000420.1:p.Asp347Asn