Canonical Allele Identifier: CA10620466

Gene: HPGD

Linked Data

• ClinVar Variation Id: 348180
• ClinVar RCV Id: RCV000352837 ; RCV000403493
• dbSNP Id: rs9312555
• gnomAD v2: 4-175411953-A-G
• gnomAD v3: 4-174490802-A-G
• gnomAD v4: 4-174490802-A-G
• MyVariant Identifiers: chr4:g.175411953A>G (hg19) ; chr4:g.174490802A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174490802A>G , CM000666.2:g.174490802A>G	GRCh38
NC_000004.11:g.175411953A>G , CM000666.1:g.175411953A>G	GRCh37
NC_000004.10:g.175648528A>G	NCBI36
NG_011689.1:g.36840T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.*1154T>C MANE Select	ENSP00000296522.6:n.*1154T>C
ENST00000296522.10:c.*1154T>C	ENSP00000296522.6:n.*1154T>C
ENST00000541923.5:c.*1154T>C	ENSP00000438017.1:n.*1154T>C
ENST00000542498.5:c.*1282T>C	ENSP00000443644.1:n.*1282T>C
NM_000860.5:c.*1154T>C	NP_000851.2:n.*1154T>C
NM_001145816.2:c.*1254T>C	NP_001139288.1:n.*1254T>C
NM_001256301.1:c.*1154T>C	NP_001243230.1:n.*1154T>C
NM_001256305.1:c.*1282T>C	NP_001243234.1:n.*1282T>C
NM_001256306.1:c.*1154T>C	NP_001243235.1:n.*1154T>C
NM_001256307.1:c.*1154T>C	NP_001243236.1:n.*1154T>C
NM_000860.6:c.*1154T>C MANE Select	NP_000851.2:n.*1154T>C
NM_001145816.3:c.*1254T>C	NP_001139288.1:n.*1254T>C
NM_001256305.2:c.*1282T>C	NP_001243234.1:n.*1282T>C
NM_001256306.2:c.*1154T>C	NP_001243235.1:n.*1154T>C
NM_001256307.2:c.*1154T>C	NP_001243236.1:n.*1154T>C