Canonical Allele Identifier: CA151184
Gene: GSC HGNC NCBI

Linked Data

ClinVar Variation Id: 126524
ClinVar RCV Id: RCV000114413
dbSNP Id: rs587777290
gnomAD v4: 14-94769660-C-G
MyVariant Identifiers: chr14:g.95235997C>G (hg19) chr14:g.94769660C>G (hg38)
PubMed: PMID:24290375
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94769660C>G , CM000676.2:g.94769660C>G GRCh38
NC_000014.8:g.95235997C>G , CM000676.1:g.95235997C>G GRCh37
NC_000014.7:g.94305750C>G NCBI36
NG_034111.1:g.5503G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000238558.5:c.355+1G>C MANE Select ENSP00000238558.3:n.355+1G>C
ENST00000238558.4:c.355+1G>C ENSP00000238558.3:n.355+1G>C
NM_173849.2:c.355+1G>C NP_776248.1:n.355+1G>C
NM_173849.3:c.355+1G>C MANE Select NP_776248.1:n.355+1G>C
Search 100 bp 5'
Search 100 bp 3'