Canonical Allele Identifier: CA3142214

Gene: HPGD

Linked Data

• dbSNP Id: rs762058274
• ExAC: 4:175414370 T / G
• gnomAD v2: 4-175414370-T-G
• gnomAD v4: 4-174493219-T-G
• MyVariant Identifiers: chr4:g.175414370T>G (hg19) ; chr4:g.174493219T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493219T>G , CM000666.2:g.174493219T>G	GRCh38
NC_000004.11:g.175414370T>G , CM000666.1:g.175414370T>G	GRCh37
NC_000004.10:g.175650945T>G	NCBI36
NG_011689.1:g.34423A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.594A>C MANE Select	ENSP00000296522.6:p.Glu198Asp
ENST00000296521.11:c.499-1125A>C	ENSP00000296521.7:n.499-1125A>C
ENST00000296522.10:c.594A>C	ENSP00000296522.6:p.Glu198Asp
ENST00000422112.6:c.390A>C	ENSP00000398720.2:p.Glu130Asp
ENST00000506910.5:c.231A>C	ENSP00000423066.1:p.Glu77Asp
ENST00000508330.5:c.*223A>C	ENSP00000425741.1:n.*223A>C
ENST00000509512.1:n.243A>C
ENST00000510835.5:c.*356A>C	ENSP00000427699.1:n.*356A>C
ENST00000510901.5:c.231A>C	ENSP00000422418.1:p.Glu77Asp
ENST00000511499.5:n.378A>C
ENST00000514584.5:c.231A>C	ENSP00000423110.1:p.Glu77Asp
ENST00000541923.5:c.231A>C	ENSP00000438017.1:p.Glu77Asp
ENST00000542498.5:c.422-1125A>C	ENSP00000443644.1:n.422-1125A>C
NM_000860.5:c.594A>C	NP_000851.2:p.Glu198Asp
NM_001145816.2:c.499-1125A>C	NP_001139288.1:n.499-1125A>C
NM_001256301.1:c.231A>C	NP_001243230.1:p.Glu77Asp
NM_001256305.1:c.422-1125A>C	NP_001243234.1:n.422-1125A>C
NM_001256306.1:c.390A>C	NP_001243235.1:p.Glu130Asp
NM_001256307.1:c.231A>C	NP_001243236.1:p.Glu77Asp
NM_000860.6:c.594A>C MANE Select	NP_000851.2:p.Glu198Asp
NM_001145816.3:c.499-1125A>C	NP_001139288.1:n.499-1125A>C
NM_001256305.2:c.422-1125A>C	NP_001243234.1:n.422-1125A>C
NM_001256306.2:c.390A>C	NP_001243235.1:p.Glu130Asp
NM_001256307.2:c.231A>C	NP_001243236.1:p.Glu77Asp