Canonical Allele Identifier: CA5576790
Gene: MAT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 256105
ClinVar RCV Id: RCV000251869 RCV000358819 RCV001594890
dbSNP Id: rs1143694
ExAC: 10:82040052 A / G
gnomAD v2: 10-82040052-A-G
gnomAD v3: 10-80280296-A-G
gnomAD v4: 10-80280296-A-G
MyVariant Identifiers: chr10:g.82040052A>G (hg19) chr10:g.80280296A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280296A>G , CM000672.2:g.80280296A>G GRCh38
NC_000010.10:g.82040052A>G , CM000672.1:g.82040052A>G GRCh37
NC_000010.9:g.82030032A>G NCBI36
NG_008083.1:g.14383T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.426T>C MANE Select ENSP00000361287.3:p.Ala142=
ENST00000372213.7:c.426T>C ENSP00000361287.3:p.Ala142=
ENST00000455001.1:c.237T>C ENSP00000414961.1:p.Ala79=
NM_000429.2:c.426T>C NP_000420.1:p.Ala142=
XM_005269842.3:c.426T>C XP_005269899.1:p.Ala142=
XM_005269843.3:c.303T>C XP_005269900.1:p.Ala101=
NM_000429.3:c.426T>C MANE Select NP_000420.1:p.Ala142=
Search 100 bp 5'
Search 100 bp 3'