Canonical Allele Identifier: CA5576779
Gene: MAT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2882571
ClinVar RCV Id: RCV003635775
dbSNP Id: rs759930801
ExAC: 10:82039973 G / A
gnomAD v2: 10-82039973-G-A
gnomAD v3: 10-80280217-G-A
gnomAD v4: 10-80280217-G-A
COSMIC: COSM4016260
MyVariant Identifiers: chr10:g.82039973G>A (hg19) chr10:g.80280217G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280217G>A , CM000672.2:g.80280217G>A GRCh38
NC_000010.10:g.82039973G>A , CM000672.1:g.82039973G>A GRCh37
NC_000010.9:g.82029953G>A NCBI36
NG_008083.1:g.14462C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.505C>T MANE Select ENSP00000361287.3:p.Arg169Cys
ENST00000372213.7:c.505C>T ENSP00000361287.3:p.Arg169Cys
ENST00000455001.1:c.316C>T ENSP00000414961.1:p.Arg106Cys
NM_000429.2:c.505C>T NP_000420.1:p.Arg169Cys
XM_005269842.3:c.505C>T XP_005269899.1:p.Arg169Cys
XM_005269843.3:c.382C>T XP_005269900.1:p.Arg128Cys
NM_000429.3:c.505C>T MANE Select NP_000420.1:p.Arg169Cys
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Search 100 bp 3'