Canonical Allele Identifier: CA6839814
Gene: HPD HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1154510

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121857429T>C , CM000674.2:g.121857429T>C GRCh38
NC_000012.11:g.122295335T>C , CM000674.1:g.122295335T>C GRCh37
NC_000012.10:g.120779718T>C NCBI36
NG_016461.1:g.36183A>G

Transcript Alleles

HGVS Amino-acid change
NM_001171993.1:c.-21A>G VV NP_001165464.1:p.=
NM_002150.2:c.97A>G VV NP_002141.1:p.Ala33=
XR_002957437.1:n.324-190T>C
NM_002150.3:c.97A>G VV MANE Preferred NP_002141.2:p.Thr33Ala
ENST00000289004.8:c.97A>G ENSP00000289004.4:p.Thr33Ala
ENST00000535114.1:n.453A>G
ENST00000542159.2:n.155A>G
ENST00000543163.5:c.-21A>G ENSP00000441677.1:p.=