Canonical Allele Identifier: CA470467443
Gene: MAT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1464393
ClinVar RCV Id: RCV001997945
dbSNP Id: rs2132702574
gnomAD v4: 10-80276403-A-G
MyVariant Identifiers: chr10:g.82036159A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80276403A>G , CM000672.2:g.80276403A>G GRCh38
NC_000010.10:g.82036159A>G , CM000672.1:g.82036159A>G GRCh37
NC_000010.9:g.82026139A>G NCBI36
NG_008083.1:g.18276T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.741T>C MANE Select ENSP00000361287.3:p.Ser247=
ENST00000372213.7:c.741T>C ENSP00000361287.3:p.Ser247=
NM_000429.2:c.741T>C NP_000420.1:p.Ser247=
XM_005269842.3:c.741T>C XP_005269899.1:p.Ser247=
XM_005269843.3:c.618T>C XP_005269900.1:p.Ser206=
NM_000429.3:c.741T>C MANE Select NP_000420.1:p.Ser247=
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