Canonical Allele Identifier: CA358812945

Gene: HPGD

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174517982G>A , CM000666.2:g.174517982G>A	GRCh38
NC_000004.11:g.175439133G>A , CM000666.1:g.175439133G>A	GRCh37
NC_000004.10:g.175675708G>A	NCBI36
NG_011689.1:g.9660C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000860.6:c.313C>T MANE Select	NP_000851.2:p.Gln105Ter
ENST00000296522.11:c.313C>T MANE Select	ENSP00000296522.6:p.Gln105Ter
NM_000860.5:c.313C>T	NP_000851.2:p.Gln105Ter
NM_001145816.2:c.313C>T	NP_001139288.1:p.Gln105Ter
NM_001145816.3:c.313C>T	NP_001139288.1:p.Gln105Ter
NM_001256301.1:c.-51C>T	NP_001243230.1:n.-51C>T
NM_001256305.1:c.313C>T	NP_001243234.1:p.Gln105Ter
NM_001256305.2:c.313C>T	NP_001243234.1:p.Gln105Ter
NM_001256306.1:c.217+3962C>T	NP_001243235.1:n.217+3962C>T
NM_001256306.2:c.217+3962C>T	NP_001243235.1:n.217+3962C>T
NM_001256307.1:c.-40+3962C>T	NP_001243236.1:n.-40+3962C>T
NM_001256307.2:c.-40+3962C>T	NP_001243236.1:n.-40+3962C>T
NM_001363574.1:c.313C>T	NP_001350503.1:p.Gln105Ter
NM_001363574.2:c.313C>T	NP_001350503.1:p.Gln105Ter
ENST00000296521.11:c.313C>T	ENSP00000296521.7:p.Gln105Ter
ENST00000296522.10:c.313C>T	ENSP00000296522.6:p.Gln105Ter
ENST00000422112.6:c.217+3962C>T	ENSP00000398720.2:n.217+3962C>T
ENST00000504433.1:c.313C>T	ENSP00000420892.1:p.Gln105Ter
ENST00000506910.5:c.-51C>T	ENSP00000423066.1:n.-51C>T
ENST00000508330.5:c.217+3962C>T	ENSP00000425741.1:n.217+3962C>T
ENST00000510835.5:c.*75C>T	ENSP00000427699.1:n.*75C>T
ENST00000510901.5:c.-51C>T	ENSP00000422418.1:n.-51C>T
ENST00000512410.1:n.294C>T
ENST00000514584.5:c.-51C>T	ENSP00000423110.1:n.-51C>T
ENST00000541923.5:c.-40+3962C>T	ENSP00000438017.1:n.-40+3962C>T
ENST00000542498.5:c.313C>T	ENSP00000443644.1:p.Gln105Ter
XM_011531907.1:c.313C>T	XP_011530209.1:p.Gln105Ter
XR_938728.1:n.755C>T
XR_938728.2:n.350C>T