Canonical Allele Identifier: CA388081285

Gene: PCDH17

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.57633494G>C , CM000675.2:g.57633494G>C	GRCh38
NC_000013.10:g.58207628G>C , CM000675.1:g.58207628G>C	GRCh37
NC_000013.9:g.57105629G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001040429.3:c.948G>C MANE Select	NP_001035519.1:p.Met316Ile
ENST00000377918.8:c.948G>C MANE Select	ENSP00000367151.3:p.Met316Ile
NM_001040429.2:c.948G>C	NP_001035519.1:p.Met316Ile
ENST00000377918.7:c.948G>C	ENSP00000367151.3:p.Met316Ile
ENST00000484979.5:c.948G>C	ENSP00000432899.1:p.Met316Ile
XM_005266357.1:c.948G>C	XP_005266414.1:p.Met316Ile
XM_005266357.2:c.948G>C	XP_005266414.1:p.Met316Ile
XM_005266358.1:c.948G>C	XP_005266415.1:p.Met316Ile
XM_005266358.2:c.948G>C	XP_005266415.1:p.Met316Ile
XM_011535050.1:c.948G>C	XP_011533352.1:p.Met316Ile
XM_017020547.1:c.948G>C	XP_016876036.1:p.Met316Ile