Canonical Allele Identifier: CA377360806
Gene: MAT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 661199
ClinVar RCV Id: RCV000818564
dbSNP Id: rs1366915768
gnomAD v4: 10-80275146-C-A
MyVariant Identifiers: chr10:g.82034902C>A (hg19) chr10:g.80275146C>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.822G>T MANE Select ENSP00000361287.3:p.Trp274Cys
ENST00000372213.7:c.822G>T ENSP00000361287.3:p.Trp274Cys
ENST00000480845.1:n.54G>T
ENST00000485270.5:n.334G>T
NM_000429.2:c.822G>T NP_000420.1:p.Trp274Cys
XM_005269842.3:c.822G>T XP_005269899.1:p.Trp274Cys
XM_005269843.3:c.699G>T XP_005269900.1:p.Trp233Cys
NM_000429.3:c.822G>T MANE Select NP_000420.1:p.Trp274Cys
Search 100 bp 5'
Search 100 bp 3'