Canonical Allele Identifier: CA3142196

Gene: HPGD

Linked Data

• dbSNP Id: rs377261970
• ExAC: 4:175414301 C / T
• gnomAD v2: 4-175414301-C-T
• gnomAD v3: 4-174493150-C-T
• gnomAD v4: 4-174493150-C-T
• MyVariant Identifiers: chr4:g.175414301C>T (hg19) ; chr4:g.174493150C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493150C>T , CM000666.2:g.174493150C>T	GRCh38
NC_000004.11:g.175414301C>T , CM000666.1:g.175414301C>T	GRCh37
NC_000004.10:g.175650876C>T	NCBI36
NG_011689.1:g.34492G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000296522.11:c.662+1G>A MANE Select	ENSP00000296522.6:n.662+1G>A
ENST00000296521.11:c.499-1056G>A	ENSP00000296521.7:n.499-1056G>A
ENST00000296522.10:c.662+1G>A	ENSP00000296522.6:n.662+1G>A
ENST00000422112.6:c.458+1G>A	ENSP00000398720.2:n.458+1G>A
ENST00000508330.5:c.*291+1G>A	ENSP00000425741.1:n.*291+1G>A
ENST00000509512.1:n.311+1G>A
ENST00000510835.5:c.*424+1G>A	ENSP00000427699.1:n.*424+1G>A
ENST00000510901.5:c.299+1G>A	ENSP00000422418.1:n.299+1G>A
ENST00000511499.5:n.446+1G>A
ENST00000541923.5:c.299+1G>A	ENSP00000438017.1:n.299+1G>A
ENST00000542498.5:c.422-1056G>A	ENSP00000443644.1:n.422-1056G>A
NM_000860.5:c.662+1G>A	NP_000851.2:n.662+1G>A
NM_001145816.2:c.499-1056G>A	NP_001139288.1:n.499-1056G>A
NM_001256301.1:c.299+1G>A	NP_001243230.1:n.299+1G>A
NM_001256305.1:c.422-1056G>A	NP_001243234.1:n.422-1056G>A
NM_001256306.1:c.458+1G>A	NP_001243235.1:n.458+1G>A
NM_001256307.1:c.299+1G>A	NP_001243236.1:n.299+1G>A
NM_000860.6:c.662+1G>A MANE Select	NP_000851.2:n.662+1G>A
NM_001145816.3:c.499-1056G>A	NP_001139288.1:n.499-1056G>A
NM_001256305.2:c.422-1056G>A	NP_001243234.1:n.422-1056G>A
NM_001256306.2:c.458+1G>A	NP_001243235.1:n.458+1G>A
NM_001256307.2:c.299+1G>A	NP_001243236.1:n.299+1G>A