Canonical Allele Identifier: CA611888866

Gene: GPC6 GPC6-AS2

Linked Data

• dbSNP Id: rs1336449220
• gnomAD v2: 13-94482856-A-C
• gnomAD v4: 13-93830603-A-C
• MyVariant Identifiers: chr13:g.94482856A>C (hg19) ; chr13:g.93830603A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.93830603A>C , CM000675.2:g.93830603A>C	GRCh38
NC_000013.10:g.94482856A>C , CM000675.1:g.94482856A>C	GRCh37
NC_000013.9:g.93280857A>C	NCBI36
NG_011880.1:g.608779A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377047.9:c.711+58A>C (GPC6) MANE Select	ENSP00000366246.3:n.711+58A>C
ENST00000377047.8:c.711+58A>C (GPC6)	ENSP00000366246.3:n.711+58A>C
NM_005708.3:c.711+58A>C (GPC6)	NP_005699.1:n.711+58A>C
NR_046536.1:n.380+213T>G (GPC6-AS2)
XM_011521044.1:c.501+58A>C (GPC6)	XP_011519346.1:n.501+58A>C
NM_005708.4:c.711+58A>C (GPC6)	NP_005699.1:n.711+58A>C
XM_011521044.2:c.501+58A>C (GPC6)	XP_011519346.1:n.501+58A>C
XM_017020298.1:c.501+58A>C (GPC6)	XP_016875787.1:n.501+58A>C
XM_017020299.2:c.501+58A>C (GPC6)	XP_016875788.1:n.501+58A>C
XM_017020300.1:c.501+58A>C (GPC6)	XP_016875789.1:n.501+58A>C
XM_017020301.1:c.345+58A>C (GPC6)	XP_016875790.1:n.345+58A>C
NM_005708.5:c.711+58A>C (GPC6) MANE Select	NP_005699.1:n.711+58A>C