Canonical Allele Identifier: CA2672714386

Gene: HPGD

Linked Data

• gnomAD v4: 4-174493044-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493044T>A , CM000666.2:g.174493044T>A	GRCh38
NC_000004.11:g.175414195T>A , CM000666.1:g.175414195T>A	GRCh37
NC_000004.10:g.175650770T>A	NCBI36
NG_011689.1:g.34598A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.662+107A>T MANE Select	ENSP00000296522.6:n.662+107A>T
ENST00000296521.11:c.499-950A>T	ENSP00000296521.7:n.499-950A>T
ENST00000296522.10:c.662+107A>T	ENSP00000296522.6:n.662+107A>T
ENST00000422112.6:c.458+107A>T	ENSP00000398720.2:n.458+107A>T
ENST00000508330.5:c.*291+107A>T	ENSP00000425741.1:n.*291+107A>T
ENST00000509512.1:n.311+107A>T
ENST00000510835.5:c.*424+107A>T	ENSP00000427699.1:n.*424+107A>T
ENST00000510901.5:c.299+107A>T	ENSP00000422418.1:n.299+107A>T
ENST00000511499.5:n.446+107A>T
ENST00000541923.5:c.299+107A>T	ENSP00000438017.1:n.299+107A>T
ENST00000542498.5:c.422-950A>T	ENSP00000443644.1:n.422-950A>T
NM_000860.5:c.662+107A>T	NP_000851.2:n.662+107A>T
NM_001145816.2:c.499-950A>T	NP_001139288.1:n.499-950A>T
NM_001256301.1:c.299+107A>T	NP_001243230.1:n.299+107A>T
NM_001256305.1:c.422-950A>T	NP_001243234.1:n.422-950A>T
NM_001256306.1:c.458+107A>T	NP_001243235.1:n.458+107A>T
NM_001256307.1:c.299+107A>T	NP_001243236.1:n.299+107A>T
NM_000860.6:c.662+107A>T MANE Select	NP_000851.2:n.662+107A>T
NM_001145816.3:c.499-950A>T	NP_001139288.1:n.499-950A>T
NM_001256305.2:c.422-950A>T	NP_001243234.1:n.422-950A>T
NM_001256306.2:c.458+107A>T	NP_001243235.1:n.458+107A>T
NM_001256307.2:c.299+107A>T	NP_001243236.1:n.299+107A>T