Canonical Allele Identifier: CA210321726
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs1027108004
MyVariant Identifiers: chr10:g.82034282A>G (hg19) chr10:g.80274526A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80274526A>G , CM000672.2:g.80274526A>G GRCh38
NC_000010.10:g.82034282A>G , CM000672.1:g.82034282A>G GRCh37
NC_000010.9:g.82024262A>G NCBI36
NG_008083.1:g.20153T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.1079T>C MANE Select ENSP00000361287.3:p.Ile360Thr
ENST00000372213.7:c.1079T>C ENSP00000361287.3:p.Ile360Thr
ENST00000480845.1:n.311T>C
ENST00000485270.5:n.591T>C
NM_000429.2:c.1079T>C NP_000420.1:p.Ile360Thr
XM_005269842.3:c.1079T>C XP_005269899.1:p.Ile360Thr
XM_005269843.3:c.956T>C XP_005269900.1:p.Ile319Thr
NM_000429.3:c.1079T>C MANE Select NP_000420.1:p.Ile360Thr
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