Canonical Allele Identifier: CA5576577
Gene: MAT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 878671
ClinVar RCV Id: RCV001105462
dbSNP Id: rs199546548
ExAC: 10:82033518 G / T
gnomAD v2: 10-82033518-G-T
gnomAD v3: 10-80273762-G-T
gnomAD v4: 10-80273762-G-T
MyVariant Identifiers: chr10:g.82033518G>T (hg19) chr10:g.80273762G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273762G>T , CM000672.2:g.80273762G>T GRCh38
NC_000010.10:g.82033518G>T , CM000672.1:g.82033518G>T GRCh37
NC_000010.9:g.82023498G>T NCBI36
NG_008083.1:g.20917C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000372213.8:c.*19C>A MANE Select ENSP00000361287.3:n.*19C>A
ENST00000372213.7:c.*19C>A ENSP00000361287.3:n.*19C>A
ENST00000480845.1:n.439C>A
ENST00000485270.5:n.719C>A
NM_000429.2:c.*19C>A NP_000420.1:n.*19C>A
XM_005269842.3:c.*19C>A XP_005269899.1:n.*19C>A
XM_005269843.3:c.*19C>A XP_005269900.1:n.*19C>A
NM_000429.3:c.*19C>A MANE Select NP_000420.1:n.*19C>A
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