Canonical Allele Identifier: CA10620465

Gene: HPGD

Linked Data

• ClinVar Variation Id: 348174
• ClinVar RCV Id: RCV000309998 ; RCV000364674
• dbSNP Id: rs45449496
• gnomAD v2: 4-175411593-T-C
• gnomAD v3: 4-174490442-T-C
• gnomAD v4: 4-174490442-T-C
• MyVariant Identifiers: chr4:g.175411593T>C (hg19) ; chr4:g.174490442T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174490442T>C , CM000666.2:g.174490442T>C	GRCh38
NC_000004.11:g.175411593T>C , CM000666.1:g.175411593T>C	GRCh37
NC_000004.10:g.175648168T>C	NCBI36
NG_011689.1:g.37200A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.*1514A>G MANE Select	ENSP00000296522.6:n.*1514A>G
ENST00000296522.10:c.*1514A>G	ENSP00000296522.6:n.*1514A>G
ENST00000541923.5:c.*1514A>G	ENSP00000438017.1:n.*1514A>G
ENST00000542498.5:c.*1642A>G	ENSP00000443644.1:n.*1642A>G
NM_000860.5:c.*1514A>G	NP_000851.2:n.*1514A>G
NM_001145816.2:c.*1614A>G	NP_001139288.1:n.*1614A>G
NM_001256301.1:c.*1514A>G	NP_001243230.1:n.*1514A>G
NM_001256305.1:c.*1642A>G	NP_001243234.1:n.*1642A>G
NM_001256306.1:c.*1514A>G	NP_001243235.1:n.*1514A>G
NM_001256307.1:c.*1514A>G	NP_001243236.1:n.*1514A>G
NM_000860.6:c.*1514A>G MANE Select	NP_000851.2:n.*1514A>G
NM_001145816.3:c.*1614A>G	NP_001139288.1:n.*1614A>G
NM_001256305.2:c.*1642A>G	NP_001243234.1:n.*1642A>G
NM_001256306.2:c.*1514A>G	NP_001243235.1:n.*1514A>G
NM_001256307.2:c.*1514A>G	NP_001243236.1:n.*1514A>G