Canonical Allele Identifier: CA358812075

Gene: HPGD

Linked Data

• gnomAD v4: 4-174493224-C-T
• MyVariant Identifiers: chr4:g.175414375C>T (hg19) ; chr4:g.174493224C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493224C>T , CM000666.2:g.174493224C>T	GRCh38
NC_000004.11:g.175414375C>T , CM000666.1:g.175414375C>T	GRCh37
NC_000004.10:g.175650950C>T	NCBI36
NG_011689.1:g.34418G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.589G>A MANE Select	ENSP00000296522.6:p.Glu197Lys
ENST00000296521.11:c.499-1130G>A	ENSP00000296521.7:n.499-1130G>A
ENST00000296522.10:c.589G>A	ENSP00000296522.6:p.Glu197Lys
ENST00000422112.6:c.385G>A	ENSP00000398720.2:p.Glu129Lys
ENST00000506910.5:c.226G>A	ENSP00000423066.1:p.Glu76Lys
ENST00000508330.5:c.*218G>A	ENSP00000425741.1:n.*218G>A
ENST00000509512.1:n.238G>A
ENST00000510835.5:c.*351G>A	ENSP00000427699.1:n.*351G>A
ENST00000510901.5:c.226G>A	ENSP00000422418.1:p.Glu76Lys
ENST00000511499.5:n.373G>A
ENST00000514584.5:c.226G>A	ENSP00000423110.1:p.Glu76Lys
ENST00000541923.5:c.226G>A	ENSP00000438017.1:p.Glu76Lys
ENST00000542498.5:c.422-1130G>A	ENSP00000443644.1:n.422-1130G>A
NM_000860.5:c.589G>A	NP_000851.2:p.Glu197Lys
NM_001145816.2:c.499-1130G>A	NP_001139288.1:n.499-1130G>A
NM_001256301.1:c.226G>A	NP_001243230.1:p.Glu76Lys
NM_001256305.1:c.422-1130G>A	NP_001243234.1:n.422-1130G>A
NM_001256306.1:c.385G>A	NP_001243235.1:p.Glu129Lys
NM_001256307.1:c.226G>A	NP_001243236.1:p.Glu76Lys
NM_000860.6:c.589G>A MANE Select	NP_000851.2:p.Glu197Lys
NM_001145816.3:c.499-1130G>A	NP_001139288.1:n.499-1130G>A
NM_001256305.2:c.422-1130G>A	NP_001243234.1:n.422-1130G>A
NM_001256306.2:c.385G>A	NP_001243235.1:p.Glu129Lys
NM_001256307.2:c.226G>A	NP_001243236.1:p.Glu76Lys