Canonical Allele Identifier: CA3142155

Gene: HPGD

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174491915T>C , CM000666.2:g.174491915T>C	GRCh38
NC_000004.11:g.175413066T>C , CM000666.1:g.175413066T>C	GRCh37
NC_000004.10:g.175649641T>C	NCBI36
NG_011689.1:g.35727A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000860.6:c.*41A>G MANE Select	NP_000851.2:n.*41A>G
ENST00000296522.11:c.*41A>G MANE Select	ENSP00000296522.6:n.*41A>G
NM_000860.5:c.*41A>G	NP_000851.2:n.*41A>G
NM_001145816.2:c.*141A>G	NP_001139288.1:n.*141A>G
NM_001145816.3:c.*141A>G	NP_001139288.1:n.*141A>G
NM_001256301.1:c.*41A>G	NP_001243230.1:n.*41A>G
NM_001256305.1:c.*169A>G	NP_001243234.1:n.*169A>G
NM_001256305.2:c.*169A>G	NP_001243234.1:n.*169A>G
NM_001256306.1:c.*41A>G	NP_001243235.1:n.*41A>G
NM_001256306.2:c.*41A>G	NP_001243235.1:n.*41A>G
NM_001256307.1:c.*41A>G	NP_001243236.1:n.*41A>G
NM_001256307.2:c.*41A>G	NP_001243236.1:n.*41A>G
ENST00000296521.11:c.*141A>G	ENSP00000296521.7:n.*141A>G
ENST00000296522.10:c.*41A>G	ENSP00000296522.6:n.*41A>G
ENST00000422112.6:c.*41A>G	ENSP00000398720.2:n.*41A>G
ENST00000508330.5:c.*471A>G	ENSP00000425741.1:n.*471A>G
ENST00000509512.1:n.491A>G
ENST00000510835.5:c.*604A>G	ENSP00000427699.1:n.*604A>G
ENST00000510901.5:c.*41A>G	ENSP00000422418.1:n.*41A>G
ENST00000511499.5:n.626A>G
ENST00000541923.5:c.*41A>G	ENSP00000438017.1:n.*41A>G
ENST00000542498.5:c.*169A>G	ENSP00000443644.1:n.*169A>G