Canonical Allele Identifier: CA7016737

Gene: GPC6

Linked Data

• ClinVar Variation Id: 312537
• ClinVar RCV Id: RCV000364515
• dbSNP Id: rs574131434
• ExAC: 13:93879687 G / T
• gnomAD v2: 13-93879687-G-T
• gnomAD v3: 13-93227434-G-T
• gnomAD v4: 13-93227434-G-T
• MyVariant Identifiers: chr13:g.93879687G>T (hg19) ; chr13:g.93227434G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.93227434G>T , CM000675.2:g.93227434G>T	GRCh38
NC_000013.10:g.93879687G>T , CM000675.1:g.93879687G>T	GRCh37
NC_000013.9:g.92677688G>T	NCBI36
NG_011880.1:g.5610G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377047.9:c.-23G>T MANE Select	ENSP00000366246.3:n.-23G>T
ENST00000377047.8:c.-23G>T	ENSP00000366246.3:n.-23G>T
NM_005708.3:c.-23G>T	NP_005699.1:n.-23G>T
NM_005708.4:c.-23G>T	NP_005699.1:n.-23G>T
NM_005708.5:c.-23G>T MANE Select	NP_005699.1:n.-23G>T