Canonical Allele Identifier: CA358812384

Gene: HPGD

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174495600G>C , CM000666.2:g.174495600G>C	GRCh38
NC_000004.11:g.175416751G>C , CM000666.1:g.175416751G>C	GRCh37
NC_000004.10:g.175653326G>C	NCBI36
NG_011689.1:g.32042C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000860.6:c.446C>G MANE Select	NP_000851.2:p.Pro149Arg
ENST00000296522.11:c.446C>G MANE Select	ENSP00000296522.6:p.Pro149Arg
NM_000860.5:c.446C>G	NP_000851.2:p.Pro149Arg
NM_001145816.2:c.446C>G	NP_001139288.1:p.Pro149Arg
NM_001145816.3:c.446C>G	NP_001139288.1:p.Pro149Arg
NM_001256301.1:c.83C>G	NP_001243230.1:p.Pro28Arg
NM_001256305.1:c.422-3506C>G	NP_001243234.1:n.422-3506C>G
NM_001256305.2:c.422-3506C>G	NP_001243234.1:n.422-3506C>G
NM_001256306.1:c.242C>G	NP_001243235.1:p.Pro81Arg
NM_001256306.2:c.242C>G	NP_001243235.1:p.Pro81Arg
NM_001256307.1:c.83C>G	NP_001243236.1:p.Pro28Arg
NM_001256307.2:c.83C>G	NP_001243236.1:p.Pro28Arg
ENST00000296521.11:c.446C>G	ENSP00000296521.7:p.Pro149Arg
ENST00000296522.10:c.446C>G	ENSP00000296522.6:p.Pro149Arg
ENST00000422112.6:c.242C>G	ENSP00000398720.2:p.Pro81Arg
ENST00000506910.5:c.83C>G	ENSP00000423066.1:p.Pro28Arg
ENST00000508330.5:c.*75C>G	ENSP00000425741.1:n.*75C>G
ENST00000510835.5:c.*208C>G	ENSP00000427699.1:n.*208C>G
ENST00000510901.5:c.83C>G	ENSP00000422418.1:p.Pro28Arg
ENST00000511499.5:n.230C>G
ENST00000512410.1:n.427C>G
ENST00000514584.5:c.83C>G	ENSP00000423110.1:p.Pro28Arg
ENST00000541923.5:c.83C>G	ENSP00000438017.1:p.Pro28Arg
ENST00000542498.5:c.422-3506C>G	ENSP00000443644.1:n.422-3506C>G