Canonical Allele Identifier: CA387012816
Gene: HPD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121846916G>C , CM000674.2:g.121846916G>C GRCh38
NC_000012.11:g.122284822G>C , CM000674.1:g.122284822G>C GRCh37
NC_000012.10:g.120769205G>C NCBI36
NG_016461.1:g.46696C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.777C>G MANE Select ENSP00000289004.4:p.Asn259Lys
ENST00000543163.5:c.660C>G ENSP00000441677.1:p.Asn220Lys
NM_001171993.1:c.660C>G NP_001165464.1:p.Asn220Lys
NM_002150.2:c.777C>G NP_002141.1:p.Asn259Lys
NM_002150.3:c.777C>G MANE Select NP_002141.2:p.Asn259Lys
NM_001171993.2:c.660C>G NP_001165464.1:p.Asn220Lys