Canonical Allele Identifier: CA128362000

Gene: PCDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140788101A>G , CM000667.2:g.140788101A>G	GRCh38
NC_000005.9:g.140167686A>G , CM000667.1:g.140167686A>G	GRCh37
NC_000005.8:g.140147870A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018900.4:c.1811A>G MANE Select	NP_061723.1:p.Asn604Ser
ENST00000504120.4:c.1811A>G MANE Select	ENSP00000420840.3:p.Asn604Ser
NM_018900.3:c.1811A>G	NP_061723.1:p.Asn604Ser
NM_031410.2:c.1811A>G	NP_113598.1:p.Asn604Ser
NM_031411.2:c.1602+209A>G	NP_113599.1:n.1602+209A>G
NM_031411.3:c.1602+209A>G	NP_113599.1:n.1602+209A>G
ENST00000378133.4:c.1811A>G	ENSP00000367373.3:p.Asn604Ser
ENST00000394633.7:c.1602+209A>G	ENSP00000378129.3:n.1602+209A>G
ENST00000504120.3:c.1811A>G	ENSP00000420840.2:p.Asn604Ser