Canonical Allele Identifier: CA377360160
Gene: MAT1A HGNC NCBI

Linked Data

gnomAD v4: 10-80273850-C-G
MyVariant Identifiers: chr10:g.82033606C>G (hg19) chr10:g.80273850C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273850C>G , CM000672.2:g.80273850C>G GRCh38
NC_000010.10:g.82033606C>G , CM000672.1:g.82033606C>G GRCh37
NC_000010.9:g.82023586C>G NCBI36
NG_008083.1:g.20829G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.1119G>C MANE Select ENSP00000361287.3:p.Lys373Asn
ENST00000372213.7:c.1119G>C ENSP00000361287.3:p.Lys373Asn
ENST00000480845.1:n.351G>C
ENST00000485270.5:n.631G>C
NM_000429.2:c.1119G>C NP_000420.1:p.Lys373Asn
XM_005269842.3:c.1119G>C XP_005269899.1:p.Lys373Asn
XM_005269843.3:c.996G>C XP_005269900.1:p.Lys332Asn
NM_000429.3:c.1119G>C MANE Select NP_000420.1:p.Lys373Asn
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