Canonical Allele Identifier: CA10644862

Gene: GPC6

Linked Data

• ClinVar Variation Id: 312529
• ClinVar RCV Id: RCV000374269 ; RCV001690035
• dbSNP Id: rs319522
• gnomAD v2: 13-93879087-G-A
• gnomAD v3: 13-93226834-G-A
• gnomAD v4: 13-93226834-G-A
• MyVariant Identifiers: chr13:g.93879087G>A (hg19) ; chr13:g.93226834G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.93226834G>A , CM000675.2:g.93226834G>A	GRCh38
NC_000013.10:g.93879087G>A , CM000675.1:g.93879087G>A	GRCh37
NC_000013.9:g.92677088G>A	NCBI36
NG_011880.1:g.5010G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377047.9:c.-623G>A MANE Select	ENSP00000366246.3:n.-623G>A
NM_005708.3:c.-623G>A	NP_005699.1:n.-623G>A
NM_005708.4:c.-623G>A	NP_005699.1:n.-623G>A
NM_005708.5:c.-623G>A MANE Select	NP_005699.1:n.-623G>A