Canonical Allele Identifier: CA3142202

Gene: HPGD

Linked Data

• ClinVar Variation Id: 1372083
• ClinVar RCV Id: RCV001907920 ; RCV003164215
• dbSNP Id: rs370867205
• ExAC: 4:175414327 T / C
• gnomAD v2: 4-175414327-T-C
• gnomAD v3: 4-174493176-T-C
• gnomAD v4: 4-174493176-T-C
• MyVariant Identifiers: chr4:g.175414327T>C (hg19) ; chr4:g.174493176T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493176T>C , CM000666.2:g.174493176T>C	GRCh38
NC_000004.11:g.175414327T>C , CM000666.1:g.175414327T>C	GRCh37
NC_000004.10:g.175650902T>C	NCBI36
NG_011689.1:g.34466A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.637A>G MANE Select	ENSP00000296522.6:p.Met213Val
ENST00000296521.11:c.499-1082A>G	ENSP00000296521.7:n.499-1082A>G
ENST00000296522.10:c.637A>G	ENSP00000296522.6:p.Met213Val
ENST00000422112.6:c.433A>G	ENSP00000398720.2:p.Met145Val
ENST00000506910.5:c.274A>G	ENSP00000423066.1:p.Met92Val
ENST00000508330.5:c.*266A>G	ENSP00000425741.1:n.*266A>G
ENST00000509512.1:n.286A>G
ENST00000510835.5:c.*399A>G	ENSP00000427699.1:n.*399A>G
ENST00000510901.5:c.274A>G	ENSP00000422418.1:p.Met92Val
ENST00000511499.5:n.421A>G
ENST00000514584.5:c.274A>G	ENSP00000423110.1:p.Met92Val
ENST00000541923.5:c.274A>G	ENSP00000438017.1:p.Met92Val
ENST00000542498.5:c.422-1082A>G	ENSP00000443644.1:n.422-1082A>G
NM_000860.5:c.637A>G	NP_000851.2:p.Met213Val
NM_001145816.2:c.499-1082A>G	NP_001139288.1:n.499-1082A>G
NM_001256301.1:c.274A>G	NP_001243230.1:p.Met92Val
NM_001256305.1:c.422-1082A>G	NP_001243234.1:n.422-1082A>G
NM_001256306.1:c.433A>G	NP_001243235.1:p.Met145Val
NM_001256307.1:c.274A>G	NP_001243236.1:p.Met92Val
NM_000860.6:c.637A>G MANE Select	NP_000851.2:p.Met213Val
NM_001145816.3:c.499-1082A>G	NP_001139288.1:n.499-1082A>G
NM_001256305.2:c.422-1082A>G	NP_001243234.1:n.422-1082A>G
NM_001256306.2:c.433A>G	NP_001243235.1:p.Met145Val
NM_001256307.2:c.274A>G	NP_001243236.1:p.Met92Val