Canonical Allele Identifier: CA2580071676

Gene: HPGD

Linked Data

• ClinVar Variation Id: 2109996
• ClinVar RCV Id: RCV003042148
• gnomAD v4: 4-174493147-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493147T>C , CM000666.2:g.174493147T>C	GRCh38
NC_000004.11:g.175414298T>C , CM000666.1:g.175414298T>C	GRCh37
NC_000004.10:g.175650873T>C	NCBI36
NG_011689.1:g.34495A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000296522.11:c.662+4A>G MANE Select	ENSP00000296522.6:n.662+4A>G
ENST00000296521.11:c.499-1053A>G	ENSP00000296521.7:n.499-1053A>G
ENST00000296522.10:c.662+4A>G	ENSP00000296522.6:n.662+4A>G
ENST00000422112.6:c.458+4A>G	ENSP00000398720.2:n.458+4A>G
ENST00000508330.5:c.*291+4A>G	ENSP00000425741.1:n.*291+4A>G
ENST00000509512.1:n.311+4A>G
ENST00000510835.5:c.*424+4A>G	ENSP00000427699.1:n.*424+4A>G
ENST00000510901.5:c.299+4A>G	ENSP00000422418.1:n.299+4A>G
ENST00000511499.5:n.446+4A>G
ENST00000541923.5:c.299+4A>G	ENSP00000438017.1:n.299+4A>G
ENST00000542498.5:c.422-1053A>G	ENSP00000443644.1:n.422-1053A>G
NM_000860.5:c.662+4A>G	NP_000851.2:n.662+4A>G
NM_001145816.2:c.499-1053A>G	NP_001139288.1:n.499-1053A>G
NM_001256301.1:c.299+4A>G	NP_001243230.1:n.299+4A>G
NM_001256305.1:c.422-1053A>G	NP_001243234.1:n.422-1053A>G
NM_001256306.1:c.458+4A>G	NP_001243235.1:n.458+4A>G
NM_001256307.1:c.299+4A>G	NP_001243236.1:n.299+4A>G
NM_000860.6:c.662+4A>G MANE Select	NP_000851.2:n.662+4A>G
NM_001145816.3:c.499-1053A>G	NP_001139288.1:n.499-1053A>G
NM_001256305.2:c.422-1053A>G	NP_001243234.1:n.422-1053A>G
NM_001256306.2:c.458+4A>G	NP_001243235.1:n.458+4A>G
NM_001256307.2:c.299+4A>G	NP_001243236.1:n.299+4A>G