Canonical Allele Identifier: CA358812278

Gene: HPGD

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174495547C>T , CM000666.2:g.174495547C>T	GRCh38
NC_000004.11:g.175416698C>T , CM000666.1:g.175416698C>T	GRCh37
NC_000004.10:g.175653273C>T	NCBI36
NG_011689.1:g.32095G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000860.6:c.498+1G>A MANE Select	NP_000851.2:n.498+1G>A
ENST00000296522.11:c.498+1G>A MANE Select	ENSP00000296522.6:n.498+1G>A
NM_000860.5:c.498+1G>A	NP_000851.2:n.498+1G>A
NM_001145816.2:c.498+1G>A	NP_001139288.1:n.498+1G>A
NM_001145816.3:c.498+1G>A	NP_001139288.1:n.498+1G>A
NM_001256301.1:c.135+1G>A	NP_001243230.1:n.135+1G>A
NM_001256305.1:c.422-3453G>A	NP_001243234.1:n.422-3453G>A
NM_001256305.2:c.422-3453G>A	NP_001243234.1:n.422-3453G>A
NM_001256306.1:c.294+1G>A	NP_001243235.1:n.294+1G>A
NM_001256306.2:c.294+1G>A	NP_001243235.1:n.294+1G>A
NM_001256307.1:c.135+1G>A	NP_001243236.1:n.135+1G>A
NM_001256307.2:c.135+1G>A	NP_001243236.1:n.135+1G>A
ENST00000296521.11:c.498+1G>A	ENSP00000296521.7:n.498+1G>A
ENST00000296522.10:c.498+1G>A	ENSP00000296522.6:n.498+1G>A
ENST00000422112.6:c.294+1G>A	ENSP00000398720.2:n.294+1G>A
ENST00000506910.5:c.135+1G>A	ENSP00000423066.1:n.135+1G>A
ENST00000508330.5:c.*127+1G>A	ENSP00000425741.1:n.*127+1G>A
ENST00000510835.5:c.*260+1G>A	ENSP00000427699.1:n.*260+1G>A
ENST00000510901.5:c.135+1G>A	ENSP00000422418.1:n.135+1G>A
ENST00000511499.5:n.282+1G>A
ENST00000512410.1:n.480G>A
ENST00000514584.5:c.135+1G>A	ENSP00000423110.1:n.135+1G>A
ENST00000541923.5:c.135+1G>A	ENSP00000438017.1:n.135+1G>A
ENST00000542498.5:c.422-3453G>A	ENSP00000443644.1:n.422-3453G>A