Canonical Allele Identifier: CA6995433

Gene: PCDH17

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.57633111G>C , CM000675.2:g.57633111G>C	GRCh38
NC_000013.10:g.58207245G>C , CM000675.1:g.58207245G>C	GRCh37
NC_000013.9:g.57105246G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377918.8:c.565G>C MANE Select	ENSP00000367151.3:p.Gly189Arg
ENST00000377918.7:c.565G>C	ENSP00000367151.3:p.Gly189Arg
ENST00000484979.5:c.565G>C	ENSP00000432899.1:p.Gly189Arg
NM_001040429.2:c.565G>C	NP_001035519.1:p.Gly189Arg
XM_005266357.1:c.565G>C	XP_005266414.1:p.Gly189Arg
XM_005266358.1:c.565G>C	XP_005266415.1:p.Gly189Arg
XM_011535050.1:c.565G>C	XP_011533352.1:p.Gly189Arg
XM_005266357.2:c.565G>C	XP_005266414.1:p.Gly189Arg
XM_005266358.2:c.565G>C	XP_005266415.1:p.Gly189Arg
XM_017020547.1:c.565G>C	XP_016876036.1:p.Gly189Arg
NM_001040429.3:c.565G>C MANE Select	NP_001035519.1:p.Gly189Arg