Canonical Allele Identifier: CA442443875

Gene: HPGD

Linked Data

• dbSNP Id: rs1303360798
• gnomAD v2: 4-175414316-G-A
• gnomAD v4: 4-174493165-G-A
• MyVariant Identifiers: chr4:g.175414316G>A (hg19) ; chr4:g.174493165G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493165G>A , CM000666.2:g.174493165G>A	GRCh38
NC_000004.11:g.175414316G>A , CM000666.1:g.175414316G>A	GRCh37
NC_000004.10:g.175650891G>A	NCBI36
NG_011689.1:g.34477C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.648C>T MANE Select	ENSP00000296522.6:p.Tyr216=
ENST00000296521.11:c.499-1071C>T	ENSP00000296521.7:n.499-1071C>T
ENST00000296522.10:c.648C>T	ENSP00000296522.6:p.Tyr216=
ENST00000422112.6:c.444C>T	ENSP00000398720.2:p.Tyr148=
ENST00000506910.5:c.285C>T	ENSP00000423066.1:p.Tyr95=
ENST00000508330.5:c.*277C>T	ENSP00000425741.1:n.*277C>T
ENST00000509512.1:n.297C>T
ENST00000510835.5:c.*410C>T	ENSP00000427699.1:n.*410C>T
ENST00000510901.5:c.285C>T	ENSP00000422418.1:p.Tyr95=
ENST00000511499.5:n.432C>T
ENST00000514584.5:c.285C>T	ENSP00000423110.1:p.Tyr95=
ENST00000541923.5:c.285C>T	ENSP00000438017.1:p.Tyr95=
ENST00000542498.5:c.422-1071C>T	ENSP00000443644.1:n.422-1071C>T
NM_000860.5:c.648C>T	NP_000851.2:p.Tyr216=
NM_001145816.2:c.499-1071C>T	NP_001139288.1:n.499-1071C>T
NM_001256301.1:c.285C>T	NP_001243230.1:p.Tyr95=
NM_001256305.1:c.422-1071C>T	NP_001243234.1:n.422-1071C>T
NM_001256306.1:c.444C>T	NP_001243235.1:p.Tyr148=
NM_001256307.1:c.285C>T	NP_001243236.1:p.Tyr95=
NM_000860.6:c.648C>T MANE Select	NP_000851.2:p.Tyr216=
NM_001145816.3:c.499-1071C>T	NP_001139288.1:n.499-1071C>T
NM_001256305.2:c.422-1071C>T	NP_001243234.1:n.422-1071C>T
NM_001256306.2:c.444C>T	NP_001243235.1:p.Tyr148=
NM_001256307.2:c.285C>T	NP_001243236.1:p.Tyr95=