Canonical Allele Identifier: CA5576666
Gene: MAT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2787752
ClinVar RCV Id: RCV003636207
dbSNP Id: rs138806118
ExAC: 10:82034798 C / T
gnomAD v2: 10-82034798-C-T
gnomAD v3: 10-80275042-C-T
gnomAD v4: 10-80275042-C-T
MyVariant Identifiers: chr10:g.82034798C>T (hg19) chr10:g.80275042C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275042C>T , CM000672.2:g.80275042C>T GRCh38
NC_000010.10:g.82034798C>T , CM000672.1:g.82034798C>T GRCh37
NC_000010.9:g.82024778C>T NCBI36
NG_008083.1:g.19637G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.926G>A MANE Select ENSP00000361287.3:p.Gly309Glu
ENST00000372213.7:c.926G>A ENSP00000361287.3:p.Gly309Glu
ENST00000480845.1:n.158G>A
ENST00000485270.5:n.438G>A
NM_000429.2:c.926G>A NP_000420.1:p.Gly309Glu
XM_005269842.3:c.926G>A XP_005269899.1:p.Gly309Glu
XM_005269843.3:c.803G>A XP_005269900.1:p.Gly268Glu
NM_000429.3:c.926G>A MANE Select NP_000420.1:p.Gly309Glu
Search 100 bp 5'
Search 100 bp 3'