Canonical Allele Identifier: CA3142415

Gene: HPGD

Linked Data

• ClinVar Variation Id: 348205
• ClinVar RCV Id: RCV000310890 ; RCV000395849 ; RCV002520229
• dbSNP Id: rs750817164
• ExAC: 4:175443525 C / T
• gnomAD v2: 4-175443525-C-T
• gnomAD v3: 4-174522374-C-T
• gnomAD v4: 4-174522374-C-T
• MyVariant Identifiers: chr4:g.175443525C>T (hg19) ; chr4:g.174522374C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174522374C>T , CM000666.2:g.174522374C>T	GRCh38
NC_000004.11:g.175443525C>T , CM000666.1:g.175443525C>T	GRCh37
NC_000004.10:g.175680100C>T	NCBI36
NG_011689.1:g.5268G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.78G>A MANE Select	ENSP00000296522.6:p.Leu26=
ENST00000296521.11:c.78G>A	ENSP00000296521.7:p.Leu26=
ENST00000296522.10:c.78G>A	ENSP00000296522.6:p.Leu26=
ENST00000422112.6:c.78G>A	ENSP00000398720.2:p.Leu26=
ENST00000504433.1:c.78G>A	ENSP00000420892.1:p.Leu26=
ENST00000506910.5:c.-271+250G>A	ENSP00000423066.1:n.-271+250G>A
ENST00000508330.5:c.78G>A	ENSP00000425741.1:p.Leu26=
ENST00000510835.5:c.78G>A	ENSP00000427699.1:p.Leu26=
ENST00000510901.5:c.-271+250G>A	ENSP00000422418.1:n.-271+250G>A
ENST00000512410.1:n.59G>A
ENST00000541923.5:c.-179G>A	ENSP00000438017.1:n.-179G>A
ENST00000542498.5:c.78G>A	ENSP00000443644.1:p.Leu26=
NM_000860.5:c.78G>A	NP_000851.2:p.Leu26=
NM_001145816.2:c.78G>A	NP_001139288.1:p.Leu26=
NM_001256301.1:c.-271+250G>A	NP_001243230.1:n.-271+250G>A
NM_001256305.1:c.78G>A	NP_001243234.1:p.Leu26=
NM_001256306.1:c.78G>A	NP_001243235.1:p.Leu26=
NM_001256307.1:c.-179G>A	NP_001243236.1:n.-179G>A
XM_011531907.1:c.78G>A	XP_011530209.1:p.Leu26=
XR_938728.1:n.520G>A
NM_001363574.1:c.78G>A	NP_001350503.1:p.Leu26=
XR_938728.2:n.115G>A
NM_000860.6:c.78G>A MANE Select	NP_000851.2:p.Leu26=
NM_001363574.2:c.78G>A	NP_001350503.1:p.Leu26=
NM_001145816.3:c.78G>A	NP_001139288.1:p.Leu26=
NM_001256305.2:c.78G>A	NP_001243234.1:p.Leu26=
NM_001256306.2:c.78G>A	NP_001243235.1:p.Leu26=
NM_001256307.2:c.-179G>A	NP_001243236.1:n.-179G>A