Canonical Allele Identifier: CA376515801

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53806637-T-G
• MyVariant Identifiers: chr10:g.55566397T>G (hg19) ; chr10:g.53806637T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806637T>G , CM000672.2:g.53806637T>G	GRCh38
NC_000010.10:g.55566397T>G , CM000672.1:g.55566397T>G	GRCh37
NC_000010.9:g.55236403T>G	NCBI36
NG_009191.2:g.999655A>C
NG_009191.3:g.1827546A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4024A>C
ENST00000644397.2:c.5165A>C MANE Select	ENSP00000495195.1:p.Asp1722Ala
ENST00000373965.6:c.4976A>C	ENSP00000363076.3:p.Asp1659Ala
ENST00000414778.5:c.4973A>C	ENSP00000410304.2:p.Asp1658Ala
ENST00000495484.5:c.1193A>C	ENSP00000480780.1:p.Asp398Ala
ENST00000614895.4:c.4988A>C	ENSP00000478512.1:p.Asp1663Ala
ENST00000616114.4:c.4970A>C	ENSP00000483745.1:p.Asp1657Ala
ENST00000618301.4:c.1325A>C	ENSP00000482780.1:p.Asp442Ala
ENST00000621708.4:c.4991A>C	ENSP00000484454.1:p.Asp1664Ala
NM_001142771.1:c.4991A>C	NP_001136243.1:p.Asp1664Ala
NM_001142772.1:c.4976A>C	NP_001136244.1:p.Asp1659Ala
NM_001354420.1:c.4970A>C	NP_001341349.1:p.Asp1657Ala
NM_001354429.1:c.5099A>C	NP_001341358.1:p.Asp1700Ala
XR_001747192.2:n.11457A>C
XR_001747193.2:n.11448A>C
NM_001142771.2:c.4991A>C	NP_001136243.1:p.Asp1664Ala
NM_001142772.2:c.4976A>C	NP_001136244.1:p.Asp1659Ala
NM_001354420.2:c.4970A>C	NP_001341349.1:p.Asp1657Ala
NM_001354429.2:c.5099A>C	NP_001341358.1:p.Asp1700Ala
NM_001384140.1:c.5165A>C MANE Select	NP_001371069.1:p.Asp1722Ala