Canonical Allele Identifier: CA111125715

Gene: HPGD

Linked Data

• dbSNP Id: rs779821559
• gnomAD v4: 4-174493263-C-G
• MyVariant Identifiers: chr4:g.175414414C>G (hg19) ; chr4:g.174493263C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493263C>G , CM000666.2:g.174493263C>G	GRCh38
NC_000004.11:g.175414414C>G , CM000666.1:g.175414414C>G	GRCh37
NC_000004.10:g.175650989C>G	NCBI36
NG_011689.1:g.34379G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.550G>C MANE Select	ENSP00000296522.6:p.Gly184Arg
ENST00000296521.11:c.499-1169G>C	ENSP00000296521.7:n.499-1169G>C
ENST00000296522.10:c.550G>C	ENSP00000296522.6:p.Gly184Arg
ENST00000422112.6:c.346G>C	ENSP00000398720.2:p.Gly116Arg
ENST00000506910.5:c.187G>C	ENSP00000423066.1:p.Gly63Arg
ENST00000508330.5:c.*179G>C	ENSP00000425741.1:n.*179G>C
ENST00000509512.1:n.199G>C
ENST00000510835.5:c.*312G>C	ENSP00000427699.1:n.*312G>C
ENST00000510901.5:c.187G>C	ENSP00000422418.1:p.Gly63Arg
ENST00000511499.5:n.334G>C
ENST00000514584.5:c.187G>C	ENSP00000423110.1:p.Gly63Arg
ENST00000541923.5:c.187G>C	ENSP00000438017.1:p.Gly63Arg
ENST00000542498.5:c.422-1169G>C	ENSP00000443644.1:n.422-1169G>C
NM_000860.5:c.550G>C	NP_000851.2:p.Gly184Arg
NM_001145816.2:c.499-1169G>C	NP_001139288.1:n.499-1169G>C
NM_001256301.1:c.187G>C	NP_001243230.1:p.Gly63Arg
NM_001256305.1:c.422-1169G>C	NP_001243234.1:n.422-1169G>C
NM_001256306.1:c.346G>C	NP_001243235.1:p.Gly116Arg
NM_001256307.1:c.187G>C	NP_001243236.1:p.Gly63Arg
NM_000860.6:c.550G>C MANE Select	NP_000851.2:p.Gly184Arg
NM_001145816.3:c.499-1169G>C	NP_001139288.1:n.499-1169G>C
NM_001256305.2:c.422-1169G>C	NP_001243234.1:n.422-1169G>C
NM_001256306.2:c.346G>C	NP_001243235.1:p.Gly116Arg
NM_001256307.2:c.187G>C	NP_001243236.1:p.Gly63Arg