Canonical Allele Identifier: CA174579
Gene: GAPDHS HGNC NCBI
TMEM147-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161676
ClinVar RCV Id: RCV000149212
dbSNP Id: rs193920833
gnomAD v4: 19-35544981-G-A
COSMIC: COSM1179688
MyVariant Identifiers: chr19:g.36035883G>A (hg19) chr19:g.35544981G>A (hg38)
PubMed: PMID:23265383
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35544981G>A , CM000681.2:g.35544981G>A GRCh38
NC_000019.9:g.36035883G>A , CM000681.1:g.36035883G>A GRCh37
NC_000019.8:g.40727723G>A NCBI36
NG_046898.1:g.16570G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222286.9:c.1129G>A (GAPDHS) MANE Select ENSP00000222286.3:p.Asp377Asn
ENST00000222286.8:c.1129G>A (GAPDHS) ENSP00000222286.3:p.Asp377Asn
NM_014364.4:c.1129G>A (GAPDHS) NP_055179.1:p.Asp377Asn
NR_038396.1:n.93+956C>T (TMEM147-AS1)
NM_014364.5:c.1129G>A (GAPDHS) MANE Select NP_055179.1:p.Asp377Asn
Search 100 bp 5'
Search 100 bp 3'