Canonical Allele Identifier: CA358812219

Gene: HPGD

Linked Data

• MyVariant Identifiers: chr4:g.175414443C>T (hg19) ; chr4:g.174493292C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493292C>T , CM000666.2:g.174493292C>T	GRCh38
NC_000004.11:g.175414443C>T , CM000666.1:g.175414443C>T	GRCh37
NC_000004.10:g.175651018C>T	NCBI36
NG_011689.1:g.34350G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.521G>A MANE Select	ENSP00000296522.6:p.Ser174Asn
ENST00000296521.11:c.499-1198G>A	ENSP00000296521.7:n.499-1198G>A
ENST00000296522.10:c.521G>A	ENSP00000296522.6:p.Ser174Asn
ENST00000422112.6:c.317G>A	ENSP00000398720.2:p.Ser106Asn
ENST00000506910.5:c.158G>A	ENSP00000423066.1:p.Ser53Asn
ENST00000508330.5:c.*150G>A	ENSP00000425741.1:n.*150G>A
ENST00000509512.1:n.170G>A
ENST00000510835.5:c.*283G>A	ENSP00000427699.1:n.*283G>A
ENST00000510901.5:c.158G>A	ENSP00000422418.1:p.Ser53Asn
ENST00000511499.5:n.305G>A
ENST00000514584.5:c.158G>A	ENSP00000423110.1:p.Ser53Asn
ENST00000541923.5:c.158G>A	ENSP00000438017.1:p.Ser53Asn
ENST00000542498.5:c.422-1198G>A	ENSP00000443644.1:n.422-1198G>A
NM_000860.5:c.521G>A	NP_000851.2:p.Ser174Asn
NM_001145816.2:c.499-1198G>A	NP_001139288.1:n.499-1198G>A
NM_001256301.1:c.158G>A	NP_001243230.1:p.Ser53Asn
NM_001256305.1:c.422-1198G>A	NP_001243234.1:n.422-1198G>A
NM_001256306.1:c.317G>A	NP_001243235.1:p.Ser106Asn
NM_001256307.1:c.158G>A	NP_001243236.1:p.Ser53Asn
NM_000860.6:c.521G>A MANE Select	NP_000851.2:p.Ser174Asn
NM_001145816.3:c.499-1198G>A	NP_001139288.1:n.499-1198G>A
NM_001256305.2:c.422-1198G>A	NP_001243234.1:n.422-1198G>A
NM_001256306.2:c.317G>A	NP_001243235.1:p.Ser106Asn
NM_001256307.2:c.158G>A	NP_001243236.1:p.Ser53Asn