Canonical Allele Identifier: CA387012668
Gene: HPD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121846897G>T , CM000674.2:g.121846897G>T GRCh38
NC_000012.11:g.122284803G>T , CM000674.1:g.122284803G>T GRCh37
NC_000012.10:g.120769186G>T NCBI36
NG_016461.1:g.46715C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.796C>A MANE Select ENSP00000289004.4:p.His266Asn
ENST00000543163.5:c.679C>A ENSP00000441677.1:p.His227Asn
NM_001171993.1:c.679C>A NP_001165464.1:p.His227Asn
NM_002150.2:c.796C>A NP_002141.1:p.His266Asn
NM_002150.3:c.796C>A MANE Select NP_002141.2:p.His266Asn
NM_001171993.2:c.679C>A NP_001165464.1:p.His227Asn