Canonical Allele Identifier: CA3142197

Gene: HPGD

Linked Data

• ClinVar Variation Id: 731352
• ClinVar RCV Id: RCV000906296
• dbSNP Id: rs572197504
• ExAC: 4:175414302 T / A
• gnomAD v2: 4-175414302-T-A
• gnomAD v3: 4-174493151-T-A
• gnomAD v4: 4-174493151-T-A
• MyVariant Identifiers: chr4:g.175414302T>A (hg19) ; chr4:g.174493151T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493151T>A , CM000666.2:g.174493151T>A	GRCh38
NC_000004.11:g.175414302T>A , CM000666.1:g.175414302T>A	GRCh37
NC_000004.10:g.175650877T>A	NCBI36
NG_011689.1:g.34491A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000296522.11:c.662A>T MANE Select	ENSP00000296522.6:p.Asp221Val
ENST00000296521.11:c.499-1057A>T	ENSP00000296521.7:n.499-1057A>T
ENST00000296522.10:c.662A>T	ENSP00000296522.6:p.Asp221Val
ENST00000422112.6:c.458A>T	ENSP00000398720.2:p.Asp153Val
ENST00000508330.5:c.*291A>T	ENSP00000425741.1:n.*291A>T
ENST00000509512.1:n.311A>T
ENST00000510835.5:c.*424A>T	ENSP00000427699.1:n.*424A>T
ENST00000510901.5:c.299A>T	ENSP00000422418.1:p.Asp100Val
ENST00000511499.5:n.446A>T
ENST00000541923.5:c.299A>T	ENSP00000438017.1:p.Asp100Val
ENST00000542498.5:c.422-1057A>T	ENSP00000443644.1:n.422-1057A>T
NM_000860.5:c.662A>T	NP_000851.2:p.Asp221Val
NM_001145816.2:c.499-1057A>T	NP_001139288.1:n.499-1057A>T
NM_001256301.1:c.299A>T	NP_001243230.1:p.Asp100Val
NM_001256305.1:c.422-1057A>T	NP_001243234.1:n.422-1057A>T
NM_001256306.1:c.458A>T	NP_001243235.1:p.Asp153Val
NM_001256307.1:c.299A>T	NP_001243236.1:p.Asp100Val
NM_000860.6:c.662A>T MANE Select	NP_000851.2:p.Asp221Val
NM_001145816.3:c.499-1057A>T	NP_001139288.1:n.499-1057A>T
NM_001256305.2:c.422-1057A>T	NP_001243234.1:n.422-1057A>T
NM_001256306.2:c.458A>T	NP_001243235.1:p.Asp153Val
NM_001256307.2:c.299A>T	NP_001243236.1:p.Asp100Val