Canonical Allele Identifier: CA5576576
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs780881453
ExAC: 10:82033510 T / G
MyVariant Identifiers: chr10:g.82033510T>G (hg19) chr10:g.80273754T>G (hg38)
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Genomic Alleles

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

Transcript Alleles

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