Canonical Allele Identifier: CA210322301
Gene: MAT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2161123
ClinVar RCV Id: RCV003087888
dbSNP Id: rs1014911761
gnomAD v2: 10-82034789-C-T
gnomAD v4: 10-80275033-C-T
MyVariant Identifiers: chr10:g.82034789C>T (hg19) chr10:g.80275033C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275033C>T , CM000672.2:g.80275033C>T GRCh38
NC_000010.10:g.82034789C>T , CM000672.1:g.82034789C>T GRCh37
NC_000010.9:g.82024769C>T NCBI36
NG_008083.1:g.19646G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.935G>A MANE Select ENSP00000361287.3:p.Arg312Gln
ENST00000372213.7:c.935G>A ENSP00000361287.3:p.Arg312Gln
ENST00000480845.1:n.167G>A
ENST00000485270.5:n.447G>A
NM_000429.2:c.935G>A NP_000420.1:p.Arg312Gln
XM_005269842.3:c.935G>A XP_005269899.1:p.Arg312Gln
XM_005269843.3:c.812G>A XP_005269900.1:p.Arg271Gln
NM_000429.3:c.935G>A MANE Select NP_000420.1:p.Arg312Gln
Search 100 bp 5'
Search 100 bp 3'