Canonical Allele Identifier: CA5576686
Gene: MAT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 256106
ClinVar RCV Id: RCV000243664 RCV000289020 RCV001658177
dbSNP Id: rs10788546
ExAC: 10:82034854 T / C
gnomAD v2: 10-82034854-T-C
gnomAD v3: 10-80275098-T-C
gnomAD v4: 10-80275098-T-C
MyVariant Identifiers: chr10:g.82034854T>C (hg19) chr10:g.80275098T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275098T>C , CM000672.2:g.80275098T>C GRCh38
NC_000010.10:g.82034854T>C , CM000672.1:g.82034854T>C GRCh37
NC_000010.9:g.82024834T>C NCBI36
NG_008083.1:g.19581A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.870A>G MANE Select ENSP00000361287.3:p.Val290=
ENST00000372213.7:c.870A>G ENSP00000361287.3:p.Val290=
ENST00000480845.1:n.102A>G
ENST00000485270.5:n.382A>G
NM_000429.2:c.870A>G NP_000420.1:p.Val290=
XM_005269842.3:c.870A>G XP_005269899.1:p.Val290=
XM_005269843.3:c.747A>G XP_005269900.1:p.Val249=
NM_000429.3:c.870A>G MANE Select NP_000420.1:p.Val290=
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