Canonical Allele Identifier: CA2068078001
Gene: HPD HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121846940G= , CM000674.2:g.121846940G= GRCh38
NC_000012.11:g.122284846G= , CM000674.1:g.122284846G= GRCh37
NC_000012.10:g.120769229G= NCBI36
NG_016461.1:g.46672C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.760-7C= MANE Select ENSP00000289004.4:n.760-7C=
ENST00000543163.5:c.643-7C= ENSP00000441677.1:n.643-7C=
NM_001171993.1:c.643-7C= NP_001165464.1:n.643-7C=
NM_002150.2:c.760-7C= NP_002141.1:n.760-7C=
NM_002150.3:c.760-7C= MANE Select NP_002141.2:n.760-7C=
NM_001171993.2:c.643-7C= NP_001165464.1:n.643-7C=
Search 100 bp 5'
Search 100 bp 3'