Canonical Allele Identifier: CA2764588575

Gene: HPGD

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493093T>A , CM000666.2:g.174493093T>A	GRCh38
NC_000004.11:g.175414244T>A , CM000666.1:g.175414244T>A	GRCh37
NC_000004.10:g.175650819T>A	NCBI36
NG_011689.1:g.34549A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.662+58A>T MANE Select	ENSP00000296522.6:n.662+58A>T
ENST00000296521.11:c.499-999A>T	ENSP00000296521.7:n.499-999A>T
ENST00000296522.10:c.662+58A>T	ENSP00000296522.6:n.662+58A>T
ENST00000422112.6:c.458+58A>T	ENSP00000398720.2:n.458+58A>T
ENST00000508330.5:c.*291+58A>T	ENSP00000425741.1:n.*291+58A>T
ENST00000509512.1:n.311+58A>T
ENST00000510835.5:c.*424+58A>T	ENSP00000427699.1:n.*424+58A>T
ENST00000510901.5:c.299+58A>T	ENSP00000422418.1:n.299+58A>T
ENST00000511499.5:n.446+58A>T
ENST00000541923.5:c.299+58A>T	ENSP00000438017.1:n.299+58A>T
ENST00000542498.5:c.422-999A>T	ENSP00000443644.1:n.422-999A>T
NM_000860.5:c.662+58A>T	NP_000851.2:n.662+58A>T
NM_001145816.2:c.499-999A>T	NP_001139288.1:n.499-999A>T
NM_001256301.1:c.299+58A>T	NP_001243230.1:n.299+58A>T
NM_001256305.1:c.422-999A>T	NP_001243234.1:n.422-999A>T
NM_001256306.1:c.458+58A>T	NP_001243235.1:n.458+58A>T
NM_001256307.1:c.299+58A>T	NP_001243236.1:n.299+58A>T
NM_000860.6:c.662+58A>T MANE Select	NP_000851.2:n.662+58A>T
NM_001145816.3:c.499-999A>T	NP_001139288.1:n.499-999A>T
NM_001256305.2:c.422-999A>T	NP_001243234.1:n.422-999A>T
NM_001256306.2:c.458+58A>T	NP_001243235.1:n.458+58A>T
NM_001256307.2:c.299+58A>T	NP_001243236.1:n.299+58A>T