Canonical Allele Identifier: CA358812057

Gene: HPGD

Linked Data

• dbSNP Id: rs1734427070
• gnomAD v4: 4-174493217-T-C
• MyVariant Identifiers: chr4:g.175414368T>C (hg19) ; chr4:g.174493217T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493217T>C , CM000666.2:g.174493217T>C	GRCh38
NC_000004.11:g.175414368T>C , CM000666.1:g.175414368T>C	GRCh37
NC_000004.10:g.175650943T>C	NCBI36
NG_011689.1:g.34425A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.596A>G MANE Select	ENSP00000296522.6:p.Asn199Ser
ENST00000296521.11:c.499-1123A>G	ENSP00000296521.7:n.499-1123A>G
ENST00000296522.10:c.596A>G	ENSP00000296522.6:p.Asn199Ser
ENST00000422112.6:c.392A>G	ENSP00000398720.2:p.Asn131Ser
ENST00000506910.5:c.233A>G	ENSP00000423066.1:p.Asn78Ser
ENST00000508330.5:c.*225A>G	ENSP00000425741.1:n.*225A>G
ENST00000509512.1:n.245A>G
ENST00000510835.5:c.*358A>G	ENSP00000427699.1:n.*358A>G
ENST00000510901.5:c.233A>G	ENSP00000422418.1:p.Asn78Ser
ENST00000511499.5:n.380A>G
ENST00000514584.5:c.233A>G	ENSP00000423110.1:p.Asn78Ser
ENST00000541923.5:c.233A>G	ENSP00000438017.1:p.Asn78Ser
ENST00000542498.5:c.422-1123A>G	ENSP00000443644.1:n.422-1123A>G
NM_000860.5:c.596A>G	NP_000851.2:p.Asn199Ser
NM_001145816.2:c.499-1123A>G	NP_001139288.1:n.499-1123A>G
NM_001256301.1:c.233A>G	NP_001243230.1:p.Asn78Ser
NM_001256305.1:c.422-1123A>G	NP_001243234.1:n.422-1123A>G
NM_001256306.1:c.392A>G	NP_001243235.1:p.Asn131Ser
NM_001256307.1:c.233A>G	NP_001243236.1:p.Asn78Ser
NM_000860.6:c.596A>G MANE Select	NP_000851.2:p.Asn199Ser
NM_001145816.3:c.499-1123A>G	NP_001139288.1:n.499-1123A>G
NM_001256305.2:c.422-1123A>G	NP_001243234.1:n.422-1123A>G
NM_001256306.2:c.392A>G	NP_001243235.1:p.Asn131Ser
NM_001256307.2:c.233A>G	NP_001243236.1:p.Asn78Ser