Canonical Allele Identifier: CA3142232
Gene: HPGD HGNC NCBI

Linked Data

ClinVar Variation Id: 1987563
ClinVar RCV Id: RCV002790084
dbSNP Id: rs770045369

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.174493328G>T , CM000666.2:g.174493328G>T GRCh38
NC_000004.11:g.175414479G>T , CM000666.1:g.175414479G>T GRCh37
NC_000004.10:g.175651054G>T NCBI36
NG_011689.1:g.34314C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296522.11:c.499-14C>A MANE Select ENSP00000296522.6:n.499-14C>A
ENST00000296521.11:c.499-1234C>A ENSP00000296521.7:n.499-1234C>A
ENST00000296522.10:c.499-14C>A ENSP00000296522.6:n.499-14C>A
ENST00000422112.6:c.295-14C>A ENSP00000398720.2:n.295-14C>A
ENST00000506910.5:c.136-14C>A ENSP00000423066.1:n.136-14C>A
ENST00000508330.5:c.*128-14C>A ENSP00000425741.1:n.*128-14C>A
ENST00000509512.1:n.134C>A
ENST00000510835.5:c.*261-14C>A ENSP00000427699.1:n.*261-14C>A
ENST00000510901.5:c.136-14C>A ENSP00000422418.1:n.136-14C>A
ENST00000511499.5:n.283-14C>A
ENST00000514584.5:c.136-14C>A ENSP00000423110.1:n.136-14C>A
ENST00000541923.5:c.136-14C>A ENSP00000438017.1:n.136-14C>A
ENST00000542498.5:c.422-1234C>A ENSP00000443644.1:n.422-1234C>A
NM_000860.5:c.499-14C>A NP_000851.2:n.499-14C>A
NM_001145816.2:c.499-1234C>A NP_001139288.1:n.499-1234C>A
NM_001256301.1:c.136-14C>A NP_001243230.1:n.136-14C>A
NM_001256305.1:c.422-1234C>A NP_001243234.1:n.422-1234C>A
NM_001256306.1:c.295-14C>A NP_001243235.1:n.295-14C>A
NM_001256307.1:c.136-14C>A NP_001243236.1:n.136-14C>A
NM_000860.6:c.499-14C>A MANE Select NP_000851.2:n.499-14C>A
NM_001145816.3:c.499-1234C>A NP_001139288.1:n.499-1234C>A
NM_001256305.2:c.422-1234C>A NP_001243234.1:n.422-1234C>A
NM_001256306.2:c.295-14C>A NP_001243235.1:n.295-14C>A
NM_001256307.2:c.136-14C>A NP_001243236.1:n.136-14C>A