Canonical Allele Identifier: CA377360804
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs1366915768
gnomAD v2: 10-82034902-C-T
gnomAD v4: 10-80275146-C-T
MyVariant Identifiers: chr10:g.82034902C>T (hg19) chr10:g.80275146C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275146C>T , CM000672.2:g.80275146C>T GRCh38
NC_000010.10:g.82034902C>T , CM000672.1:g.82034902C>T GRCh37
NC_000010.9:g.82024882C>T NCBI36
NG_008083.1:g.19533G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.822G>A MANE Select ENSP00000361287.3:p.Trp274Ter
ENST00000372213.7:c.822G>A ENSP00000361287.3:p.Trp274Ter
ENST00000480845.1:n.54G>A
ENST00000485270.5:n.334G>A
NM_000429.2:c.822G>A NP_000420.1:p.Trp274Ter
XM_005269842.3:c.822G>A XP_005269899.1:p.Trp274Ter
XM_005269843.3:c.699G>A XP_005269900.1:p.Trp233Ter
NM_000429.3:c.822G>A MANE Select NP_000420.1:p.Trp274Ter
Search 100 bp 5'
Search 100 bp 3'