Canonical Allele Identifier: CA594459628
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs780881453
gnomAD v2: 10-82033510-T-C
gnomAD v4: 10-80273754-T-C
MyVariant Identifiers: chr10:g.82033510T>C (hg19) chr10:g.80273754T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273754T>C , CM000672.2:g.80273754T>C GRCh38
NC_000010.10:g.82033510T>C , CM000672.1:g.82033510T>C GRCh37
NC_000010.9:g.82023490T>C NCBI36
NG_008083.1:g.20925A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000372213.8:c.*27A>G MANE Select ENSP00000361287.3:n.*27A>G
ENST00000372213.7:c.*27A>G ENSP00000361287.3:n.*27A>G
ENST00000480845.1:n.447A>G
ENST00000485270.5:n.727A>G
NM_000429.2:c.*27A>G NP_000420.1:n.*27A>G
XM_005269842.3:c.*27A>G XP_005269899.1:n.*27A>G
XM_005269843.3:c.*27A>G XP_005269900.1:n.*27A>G
NM_000429.3:c.*27A>G MANE Select NP_000420.1:n.*27A>G
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