Canonical Allele Identifier: CA442443918

Gene: HPGD

Linked Data

• MyVariant Identifiers: chr4:g.175414400T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493249T>G , CM000666.2:g.174493249T>G	GRCh38
NC_000004.11:g.175414400T>G , CM000666.1:g.175414400T>G	GRCh37
NC_000004.10:g.175650975T>G	NCBI36
NG_011689.1:g.34393A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000296522.11:c.564A>C MANE Select	ENSP00000296522.6:p.Thr188=
ENST00000296521.11:c.499-1155A>C	ENSP00000296521.7:n.499-1155A>C
ENST00000296522.10:c.564A>C	ENSP00000296522.6:p.Thr188=
ENST00000422112.6:c.360A>C	ENSP00000398720.2:p.Thr120=
ENST00000506910.5:c.201A>C	ENSP00000423066.1:p.Thr67=
ENST00000508330.5:c.*193A>C	ENSP00000425741.1:n.*193A>C
ENST00000509512.1:n.213A>C
ENST00000510835.5:c.*326A>C	ENSP00000427699.1:n.*326A>C
ENST00000510901.5:c.201A>C	ENSP00000422418.1:p.Thr67=
ENST00000511499.5:n.348A>C
ENST00000514584.5:c.201A>C	ENSP00000423110.1:p.Thr67=
ENST00000541923.5:c.201A>C	ENSP00000438017.1:p.Thr67=
ENST00000542498.5:c.422-1155A>C	ENSP00000443644.1:n.422-1155A>C
NM_000860.5:c.564A>C	NP_000851.2:p.Thr188=
NM_001145816.2:c.499-1155A>C	NP_001139288.1:n.499-1155A>C
NM_001256301.1:c.201A>C	NP_001243230.1:p.Thr67=
NM_001256305.1:c.422-1155A>C	NP_001243234.1:n.422-1155A>C
NM_001256306.1:c.360A>C	NP_001243235.1:p.Thr120=
NM_001256307.1:c.201A>C	NP_001243236.1:p.Thr67=
NM_000860.6:c.564A>C MANE Select	NP_000851.2:p.Thr188=
NM_001145816.3:c.499-1155A>C	NP_001139288.1:n.499-1155A>C
NM_001256305.2:c.422-1155A>C	NP_001243234.1:n.422-1155A>C
NM_001256306.2:c.360A>C	NP_001243235.1:p.Thr120=
NM_001256307.2:c.201A>C	NP_001243236.1:p.Thr67=