Canonical Allele Identifier: CA358812022

Gene: HPGD

Linked Data

• dbSNP Id: rs1734425043
• gnomAD v3: 4-174493201-T-C
• gnomAD v4: 4-174493201-T-C
• MyVariant Identifiers: chr4:g.175414352T>C (hg19) ; chr4:g.174493201T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493201T>C , CM000666.2:g.174493201T>C	GRCh38
NC_000004.11:g.175414352T>C , CM000666.1:g.175414352T>C	GRCh37
NC_000004.10:g.175650927T>C	NCBI36
NG_011689.1:g.34441A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.612A>G MANE Select	ENSP00000296522.6:p.Ile204Met
ENST00000296521.11:c.499-1107A>G	ENSP00000296521.7:n.499-1107A>G
ENST00000296522.10:c.612A>G	ENSP00000296522.6:p.Ile204Met
ENST00000422112.6:c.408A>G	ENSP00000398720.2:p.Ile136Met
ENST00000506910.5:c.249A>G	ENSP00000423066.1:p.Ile83Met
ENST00000508330.5:c.*241A>G	ENSP00000425741.1:n.*241A>G
ENST00000509512.1:n.261A>G
ENST00000510835.5:c.*374A>G	ENSP00000427699.1:n.*374A>G
ENST00000510901.5:c.249A>G	ENSP00000422418.1:p.Ile83Met
ENST00000511499.5:n.396A>G
ENST00000514584.5:c.249A>G	ENSP00000423110.1:p.Ile83Met
ENST00000541923.5:c.249A>G	ENSP00000438017.1:p.Ile83Met
ENST00000542498.5:c.422-1107A>G	ENSP00000443644.1:n.422-1107A>G
NM_000860.5:c.612A>G	NP_000851.2:p.Ile204Met
NM_001145816.2:c.499-1107A>G	NP_001139288.1:n.499-1107A>G
NM_001256301.1:c.249A>G	NP_001243230.1:p.Ile83Met
NM_001256305.1:c.422-1107A>G	NP_001243234.1:n.422-1107A>G
NM_001256306.1:c.408A>G	NP_001243235.1:p.Ile136Met
NM_001256307.1:c.249A>G	NP_001243236.1:p.Ile83Met
NM_000860.6:c.612A>G MANE Select	NP_000851.2:p.Ile204Met
NM_001145816.3:c.499-1107A>G	NP_001139288.1:n.499-1107A>G
NM_001256305.2:c.422-1107A>G	NP_001243234.1:n.422-1107A>G
NM_001256306.2:c.408A>G	NP_001243235.1:p.Ile136Met
NM_001256307.2:c.249A>G	NP_001243236.1:p.Ile83Met