Canonical Allele Identifier: CA5576683
Gene: MAT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 851162
ClinVar RCV Id: RCV001055501
dbSNP Id: rs781774786
ExAC: 10:82034849 C / T
gnomAD v2: 10-82034849-C-T
gnomAD v3: 10-80275093-C-T
gnomAD v4: 10-80275093-C-T
MyVariant Identifiers: chr10:g.82034849C>T (hg19) chr10:g.82034849_82034862delinsTGGTCTACCTTGGT (hg19) chr10:g.80275093C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275093C>T , CM000672.2:g.80275093C>T GRCh38
NC_000010.10:g.82034849C>T , CM000672.1:g.82034849C>T GRCh37
NC_000010.9:g.82024829C>T NCBI36
NG_008083.1:g.19586G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.875G>A MANE Select ENSP00000361287.3:p.Arg292His
ENST00000372213.7:c.875G>A ENSP00000361287.3:p.Arg292His
ENST00000480845.1:n.107G>A
ENST00000485270.5:n.387G>A
NM_000429.2:c.875G>A NP_000420.1:p.Arg292His
XM_005269842.3:c.875G>A XP_005269899.1:p.Arg292His
XM_005269843.3:c.752G>A XP_005269900.1:p.Arg251His
NM_000429.3:c.875G>A MANE Select NP_000420.1:p.Arg292His
Search 100 bp 5'
Search 100 bp 3'