Canonical Allele Identifier: CA377360527
Gene: MAT1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.82034409C>A (hg19) chr10:g.80274653C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80274653C>A , CM000672.2:g.80274653C>A GRCh38
NC_000010.10:g.82034409C>A , CM000672.1:g.82034409C>A GRCh37
NC_000010.9:g.82024389C>A NCBI36
NG_008083.1:g.20026G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372213.8:c.952G>T MANE Select ENSP00000361287.3:p.Val318Phe
ENST00000372213.7:c.952G>T ENSP00000361287.3:p.Val318Phe
ENST00000480845.1:n.184G>T
ENST00000485270.5:n.464G>T
NM_000429.2:c.952G>T NP_000420.1:p.Val318Phe
XM_005269842.3:c.952G>T XP_005269899.1:p.Val318Phe
XM_005269843.3:c.829G>T XP_005269900.1:p.Val277Phe
NM_000429.3:c.952G>T MANE Select NP_000420.1:p.Val318Phe
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