Canonical Allele Identifier: CA10620538

Gene: HPGD

Linked Data

• ClinVar Variation Id: 348176
• ClinVar RCV Id: RCV000266483 ; RCV000361120
• dbSNP Id: rs886059245
• gnomAD v2: 4-175411629-G-A
• gnomAD v3: 4-174490478-G-A
• gnomAD v4: 4-174490478-G-A
• MyVariant Identifiers: chr4:g.175411629G>A (hg19) ; chr4:g.174490478G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174490478G>A , CM000666.2:g.174490478G>A	GRCh38
NC_000004.11:g.175411629G>A , CM000666.1:g.175411629G>A	GRCh37
NC_000004.10:g.175648204G>A	NCBI36
NG_011689.1:g.37164C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.*1478C>T MANE Select	ENSP00000296522.6:n.*1478C>T
ENST00000296522.10:c.*1478C>T	ENSP00000296522.6:n.*1478C>T
ENST00000541923.5:c.*1478C>T	ENSP00000438017.1:n.*1478C>T
ENST00000542498.5:c.*1606C>T	ENSP00000443644.1:n.*1606C>T
NM_000860.5:c.*1478C>T	NP_000851.2:n.*1478C>T
NM_001145816.2:c.*1578C>T	NP_001139288.1:n.*1578C>T
NM_001256301.1:c.*1478C>T	NP_001243230.1:n.*1478C>T
NM_001256305.1:c.*1606C>T	NP_001243234.1:n.*1606C>T
NM_001256306.1:c.*1478C>T	NP_001243235.1:n.*1478C>T
NM_001256307.1:c.*1478C>T	NP_001243236.1:n.*1478C>T
NM_000860.6:c.*1478C>T MANE Select	NP_000851.2:n.*1478C>T
NM_001145816.3:c.*1578C>T	NP_001139288.1:n.*1578C>T
NM_001256305.2:c.*1606C>T	NP_001243234.1:n.*1606C>T
NM_001256306.2:c.*1478C>T	NP_001243235.1:n.*1478C>T
NM_001256307.2:c.*1478C>T	NP_001243236.1:n.*1478C>T