Canonical Allele Identifier: CA377362738
Gene: MAT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2078151
ClinVar RCV Id: RCV002988484
dbSNP Id: rs1368011064
gnomAD v2: 10-82040003-T-G
gnomAD v4: 10-80280247-T-G
MyVariant Identifiers: chr10:g.82040003T>G (hg19) chr10:g.80280247T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280247T>G , CM000672.2:g.80280247T>G GRCh38
NC_000010.10:g.82040003T>G , CM000672.1:g.82040003T>G GRCh37
NC_000010.9:g.82029983T>G NCBI36
NG_008083.1:g.14432A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.475A>C MANE Select ENSP00000361287.3:p.Lys159Gln
ENST00000372213.7:c.475A>C ENSP00000361287.3:p.Lys159Gln
ENST00000455001.1:c.286A>C ENSP00000414961.1:p.Lys96Gln
NM_000429.2:c.475A>C NP_000420.1:p.Lys159Gln
XM_005269842.3:c.475A>C XP_005269899.1:p.Lys159Gln
XM_005269843.3:c.352A>C XP_005269900.1:p.Lys118Gln
NM_000429.3:c.475A>C MANE Select NP_000420.1:p.Lys159Gln
Search 100 bp 5'
Search 100 bp 3'