Canonical Allele Identifier: CA10634563

Gene: GPC6

Linked Data

• ClinVar Variation Id: 312531
• ClinVar RCV Id: RCV000334792 ; RCV001642970
• dbSNP Id: rs17645969
• gnomAD v2: 13-93879390-C-A
• gnomAD v3: 13-93227137-C-A
• gnomAD v4: 13-93227137-C-A
• MyVariant Identifiers: chr13:g.93879390C>A (hg19) ; chr13:g.93227137C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.93227137C>A , CM000675.2:g.93227137C>A	GRCh38
NC_000013.10:g.93879390C>A , CM000675.1:g.93879390C>A	GRCh37
NC_000013.9:g.92677391C>A	NCBI36
NG_011880.1:g.5313C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377047.9:c.-320C>A MANE Select	ENSP00000366246.3:n.-320C>A
ENST00000377047.8:c.-320C>A	ENSP00000366246.3:n.-320C>A
NM_005708.3:c.-320C>A	NP_005699.1:n.-320C>A
NM_005708.4:c.-320C>A	NP_005699.1:n.-320C>A
NM_005708.5:c.-320C>A MANE Select	NP_005699.1:n.-320C>A