Canonical Allele Identifier: CA3142198

Gene: HPGD

Linked Data

• ClinVar Variation Id: 747035
• ClinVar RCV Id: RCV000923702
• dbSNP Id: rs765590699
• ExAC: 4:175414306 A / G
• gnomAD v2: 4-175414306-A-G
• gnomAD v4: 4-174493155-A-G
• MyVariant Identifiers: chr4:g.175414306A>G (hg19) ; chr4:g.174493155A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493155A>G , CM000666.2:g.174493155A>G	GRCh38
NC_000004.11:g.175414306A>G , CM000666.1:g.175414306A>G	GRCh37
NC_000004.10:g.175650881A>G	NCBI36
NG_011689.1:g.34487T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000296522.11:c.658T>C MANE Select	ENSP00000296522.6:p.Leu220=
ENST00000296521.11:c.499-1061T>C	ENSP00000296521.7:n.499-1061T>C
ENST00000296522.10:c.658T>C	ENSP00000296522.6:p.Leu220=
ENST00000422112.6:c.454T>C	ENSP00000398720.2:p.Leu152=
ENST00000506910.5:c.295T>C	ENSP00000423066.1:p.Leu99=
ENST00000508330.5:c.*287T>C	ENSP00000425741.1:n.*287T>C
ENST00000509512.1:n.307T>C
ENST00000510835.5:c.*420T>C	ENSP00000427699.1:n.*420T>C
ENST00000510901.5:c.295T>C	ENSP00000422418.1:p.Leu99=
ENST00000511499.5:n.442T>C
ENST00000541923.5:c.295T>C	ENSP00000438017.1:p.Leu99=
ENST00000542498.5:c.422-1061T>C	ENSP00000443644.1:n.422-1061T>C
NM_000860.5:c.658T>C	NP_000851.2:p.Leu220=
NM_001145816.2:c.499-1061T>C	NP_001139288.1:n.499-1061T>C
NM_001256301.1:c.295T>C	NP_001243230.1:p.Leu99=
NM_001256305.1:c.422-1061T>C	NP_001243234.1:n.422-1061T>C
NM_001256306.1:c.454T>C	NP_001243235.1:p.Leu152=
NM_001256307.1:c.295T>C	NP_001243236.1:p.Leu99=
NM_000860.6:c.658T>C MANE Select	NP_000851.2:p.Leu220=
NM_001145816.3:c.499-1061T>C	NP_001139288.1:n.499-1061T>C
NM_001256305.2:c.422-1061T>C	NP_001243234.1:n.422-1061T>C
NM_001256306.2:c.454T>C	NP_001243235.1:p.Leu152=
NM_001256307.2:c.295T>C	NP_001243236.1:p.Leu99=