Canonical Allele Identifier: CA376516056

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53806708-C-G
• MyVariant Identifiers: chr10:g.55566468C>G (hg19) ; chr10:g.53806708C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806708C>G , CM000672.2:g.53806708C>G	GRCh38
NC_000010.10:g.55566468C>G , CM000672.1:g.55566468C>G	GRCh37
NC_000010.9:g.55236474C>G	NCBI36
NG_009191.2:g.999584G>C
NG_009191.3:g.1827475G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000642496.1:c.3953G>C
ENST00000644397.2:c.5094G>C MANE Select	ENSP00000495195.1:p.Gln1698His
ENST00000373965.6:c.4905G>C	ENSP00000363076.3:p.Gln1635His
ENST00000414778.5:c.4902G>C	ENSP00000410304.2:p.Gln1634His
ENST00000495484.5:c.1122G>C	ENSP00000480780.1:p.Gln374His
ENST00000614895.4:c.4917G>C	ENSP00000478512.1:p.Gln1639His
ENST00000616114.4:c.4899G>C	ENSP00000483745.1:p.Gln1633His
ENST00000618301.4:c.1254G>C	ENSP00000482780.1:p.Gln418His
ENST00000621708.4:c.4920G>C	ENSP00000484454.1:p.Gln1640His
NM_001142771.1:c.4920G>C	NP_001136243.1:p.Gln1640His
NM_001142772.1:c.4905G>C	NP_001136244.1:p.Gln1635His
NM_001354420.1:c.4899G>C	NP_001341349.1:p.Gln1633His
NM_001354429.1:c.5028G>C	NP_001341358.1:p.Gln1676His
XR_001747192.2:n.11386G>C
XR_001747193.2:n.11377G>C
NM_001142771.2:c.4920G>C	NP_001136243.1:p.Gln1640His
NM_001142772.2:c.4905G>C	NP_001136244.1:p.Gln1635His
NM_001354420.2:c.4899G>C	NP_001341349.1:p.Gln1633His
NM_001354429.2:c.5028G>C	NP_001341358.1:p.Gln1676His
NM_001384140.1:c.5094G>C MANE Select	NP_001371069.1:p.Gln1698His