Canonical Allele Identifier: CA358812083

Gene: HPGD

Linked Data

• gnomAD v4: 4-174493227-T-G
• MyVariant Identifiers: chr4:g.175414378T>G (hg19) ; chr4:g.174493227T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493227T>G , CM000666.2:g.174493227T>G	GRCh38
NC_000004.11:g.175414378T>G , CM000666.1:g.175414378T>G	GRCh37
NC_000004.10:g.175650953T>G	NCBI36
NG_011689.1:g.34415A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.586A>C MANE Select	ENSP00000296522.6:p.Lys196Gln
ENST00000296521.11:c.499-1133A>C	ENSP00000296521.7:n.499-1133A>C
ENST00000296522.10:c.586A>C	ENSP00000296522.6:p.Lys196Gln
ENST00000422112.6:c.382A>C	ENSP00000398720.2:p.Lys128Gln
ENST00000506910.5:c.223A>C	ENSP00000423066.1:p.Lys75Gln
ENST00000508330.5:c.*215A>C	ENSP00000425741.1:n.*215A>C
ENST00000509512.1:n.235A>C
ENST00000510835.5:c.*348A>C	ENSP00000427699.1:n.*348A>C
ENST00000510901.5:c.223A>C	ENSP00000422418.1:p.Lys75Gln
ENST00000511499.5:n.370A>C
ENST00000514584.5:c.223A>C	ENSP00000423110.1:p.Lys75Gln
ENST00000541923.5:c.223A>C	ENSP00000438017.1:p.Lys75Gln
ENST00000542498.5:c.422-1133A>C	ENSP00000443644.1:n.422-1133A>C
NM_000860.5:c.586A>C	NP_000851.2:p.Lys196Gln
NM_001145816.2:c.499-1133A>C	NP_001139288.1:n.499-1133A>C
NM_001256301.1:c.223A>C	NP_001243230.1:p.Lys75Gln
NM_001256305.1:c.422-1133A>C	NP_001243234.1:n.422-1133A>C
NM_001256306.1:c.382A>C	NP_001243235.1:p.Lys128Gln
NM_001256307.1:c.223A>C	NP_001243236.1:p.Lys75Gln
NM_000860.6:c.586A>C MANE Select	NP_000851.2:p.Lys196Gln
NM_001145816.3:c.499-1133A>C	NP_001139288.1:n.499-1133A>C
NM_001256305.2:c.422-1133A>C	NP_001243234.1:n.422-1133A>C
NM_001256306.2:c.382A>C	NP_001243235.1:p.Lys128Gln
NM_001256307.2:c.223A>C	NP_001243236.1:p.Lys75Gln