Canonical Allele Identifier: CA377360634
Gene: MAT1A HGNC NCBI

Linked Data

gnomAD v4: 10-80275064-C-T
MyVariant Identifiers: chr10:g.82034820C>T (hg19) chr10:g.80275064C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.904G>A MANE Select ENSP00000361287.3:p.Ala302Thr
ENST00000372213.7:c.904G>A ENSP00000361287.3:p.Ala302Thr
ENST00000480845.1:n.136G>A
ENST00000485270.5:n.416G>A
NM_000429.2:c.904G>A NP_000420.1:p.Ala302Thr
XM_005269842.3:c.904G>A XP_005269899.1:p.Ala302Thr
XM_005269843.3:c.781G>A XP_005269900.1:p.Ala261Thr
NM_000429.3:c.904G>A MANE Select NP_000420.1:p.Ala302Thr
Search 100 bp 5'
Search 100 bp 3'