Canonical Allele Identifier: CA210320472
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs368451421
gnomAD v2: 10-82033347-A-G
gnomAD v3: 10-80273591-A-G
gnomAD v4: 10-80273591-A-G
MyVariant Identifiers: chr10:g.82033347A>G (hg19) chr10:g.80273591A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273591A>G , CM000672.2:g.80273591A>G GRCh38
NC_000010.10:g.82033347A>G , CM000672.1:g.82033347A>G GRCh37
NC_000010.9:g.82023327A>G NCBI36
NG_008083.1:g.21088T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.*190T>C MANE Select ENSP00000361287.3:n.*190T>C
ENST00000372213.7:c.*190T>C ENSP00000361287.3:n.*190T>C
ENST00000480845.1:n.610T>C
ENST00000485270.5:n.890T>C
NM_000429.2:c.*190T>C NP_000420.1:n.*190T>C
XM_005269842.3:c.*190T>C XP_005269899.1:n.*190T>C
XM_005269843.3:c.*190T>C XP_005269900.1:n.*190T>C
NM_000429.3:c.*190T>C MANE Select NP_000420.1:n.*190T>C
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