Canonical Allele Identifier: CA2068077942
Gene: HPD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121846915C= , CM000674.2:g.121846915C= GRCh38
NC_000012.11:g.122284821C= , CM000674.1:g.122284821C= GRCh37
NC_000012.10:g.120769204C= NCBI36
NG_016461.1:g.46697G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.778G= MANE Select ENSP00000289004.4:p.Gly260=
ENST00000543163.5:c.661G= ENSP00000441677.1:p.Gly221=
NM_001171993.1:c.661G= NP_001165464.1:p.Gly221=
NM_002150.2:c.778G= NP_002141.1:p.Gly260=
NM_002150.3:c.778G= MANE Select NP_002141.2:p.Gly260=
NM_001171993.2:c.661G= NP_001165464.1:p.Gly221=