Canonical Allele Identifier: CA10644863

Gene: GPC6

Linked Data

• ClinVar Variation Id: 312539
• ClinVar RCV Id: RCV000306438
• dbSNP Id: rs886050349
• MyVariant Identifiers: chr13:g.94197512G>T (hg19) ; chr13:g.93545259G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.93545259G>T , CM000675.2:g.93545259G>T	GRCh38
NC_000013.10:g.94197512G>T , CM000675.1:g.94197512G>T	GRCh37
NC_000013.9:g.92995513G>T	NCBI36
NG_011880.1:g.323435G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377047.9:c.161-4G>T MANE Select	ENSP00000366246.3:n.161-4G>T
ENST00000377047.8:c.161-4G>T	ENSP00000366246.3:n.161-4G>T
NM_005708.3:c.161-4G>T	NP_005699.1:n.161-4G>T
XM_011521044.1:c.-50-4G>T	XP_011519346.1:n.-50-4G>T
NM_005708.4:c.161-4G>T	NP_005699.1:n.161-4G>T
XM_011521044.2:c.-50-4G>T	XP_011519346.1:n.-50-4G>T
XM_017020298.1:c.-50-4G>T	XP_016875787.1:n.-50-4G>T
XM_017020299.2:c.-50-4G>T	XP_016875788.1:n.-50-4G>T
XM_017020300.1:c.-50-4G>T	XP_016875789.1:n.-50-4G>T
NM_005708.5:c.161-4G>T MANE Select	NP_005699.1:n.161-4G>T