Canonical Allele Identifier: CA2830535062

Gene: PCDH18

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.137528702C>G , CM000666.2:g.137528702C>G	GRCh38
NC_000004.11:g.138449856C>G , CM000666.1:g.138449856C>G	GRCh37
NC_000004.10:g.138669306C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344876.9:c.2576+30G>C MANE Select	ENSP00000355082.4:n.2576+30G>C
ENST00000344876.8:c.2576+30G>C	ENSP00000355082.4:n.2576+30G>C
ENST00000412923.6:c.2573+30G>C	ENSP00000390688.2:n.2573+30G>C
ENST00000507846.5:c.1913+30G>C	ENSP00000425903.1:n.1913+30G>C
ENST00000510305.5:c.209+30G>C	ENSP00000424269.1:n.209+30G>C
ENST00000511115.5:c.116+30G>C	ENSP00000425647.1:n.116+30G>C
ENST00000611581.1:c.116+30G>C	ENSP00000478176.1:n.116+30G>C
ENST00000617302.1:n.820+30G>C
ENST00000620262.1:n.199+30G>C
NM_001300828.1:c.2573+30G>C	NP_001287757.1:n.2573+30G>C
NM_019035.4:c.2576+30G>C	NP_061908.1:n.2576+30G>C
XM_006714239.2:c.2576+30G>C	XP_006714302.1:n.2576+30G>C
XM_006714239.3:c.2576+30G>C	XP_006714302.1:n.2576+30G>C
XM_017008311.1:c.2573+30G>C	XP_016863800.1:n.2573+30G>C
NM_001300828.2:c.2573+30G>C	NP_001287757.1:n.2573+30G>C
NM_019035.5:c.2576+30G>C MANE Select	NP_061908.1:n.2576+30G>C