Canonical Allele Identifier: CA10620542

Gene: HPGD

Linked Data

• ClinVar Variation Id: 348181
• ClinVar RCV Id: RCV000294439 ; RCV000349351
• dbSNP Id: rs886059246
• gnomAD v3: 4-174490825-G-A
• gnomAD v4: 4-174490825-G-A
• MyVariant Identifiers: chr4:g.175411976G>A (hg19) ; chr4:g.174490825G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174490825G>A , CM000666.2:g.174490825G>A	GRCh38
NC_000004.11:g.175411976G>A , CM000666.1:g.175411976G>A	GRCh37
NC_000004.10:g.175648551G>A	NCBI36
NG_011689.1:g.36817C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.*1131C>T MANE Select	ENSP00000296522.6:n.*1131C>T
ENST00000296522.10:c.*1131C>T	ENSP00000296522.6:n.*1131C>T
ENST00000541923.5:c.*1131C>T	ENSP00000438017.1:n.*1131C>T
ENST00000542498.5:c.*1259C>T	ENSP00000443644.1:n.*1259C>T
NM_000860.5:c.*1131C>T	NP_000851.2:n.*1131C>T
NM_001145816.2:c.*1231C>T	NP_001139288.1:n.*1231C>T
NM_001256301.1:c.*1131C>T	NP_001243230.1:n.*1131C>T
NM_001256305.1:c.*1259C>T	NP_001243234.1:n.*1259C>T
NM_001256306.1:c.*1131C>T	NP_001243235.1:n.*1131C>T
NM_001256307.1:c.*1131C>T	NP_001243236.1:n.*1131C>T
NM_000860.6:c.*1131C>T MANE Select	NP_000851.2:n.*1131C>T
NM_001145816.3:c.*1231C>T	NP_001139288.1:n.*1231C>T
NM_001256305.2:c.*1259C>T	NP_001243234.1:n.*1259C>T
NM_001256306.2:c.*1131C>T	NP_001243235.1:n.*1131C>T
NM_001256307.2:c.*1131C>T	NP_001243236.1:n.*1131C>T