Canonical Allele Identifier: CA10620476

Gene: HPGD

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174491326C>T , CM000666.2:g.174491326C>T	GRCh38
NC_000004.11:g.175412477C>T , CM000666.1:g.175412477C>T	GRCh37
NC_000004.10:g.175649052C>T	NCBI36
NG_011689.1:g.36316G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.*630G>A MANE Select	ENSP00000296522.6:n.*630G>A
ENST00000296522.10:c.*630G>A	ENSP00000296522.6:n.*630G>A
ENST00000510835.5:c.*1193G>A	ENSP00000427699.1:n.*1193G>A
ENST00000541923.5:c.*630G>A	ENSP00000438017.1:n.*630G>A
ENST00000542498.5:c.*758G>A	ENSP00000443644.1:n.*758G>A
NM_000860.5:c.*630G>A	NP_000851.2:n.*630G>A
NM_001145816.2:c.*730G>A	NP_001139288.1:n.*730G>A
NM_001256301.1:c.*630G>A	NP_001243230.1:n.*630G>A
NM_001256305.1:c.*758G>A	NP_001243234.1:n.*758G>A
NM_001256306.1:c.*630G>A	NP_001243235.1:n.*630G>A
NM_001256307.1:c.*630G>A	NP_001243236.1:n.*630G>A
NM_000860.6:c.*630G>A MANE Select	NP_000851.2:n.*630G>A
NM_001145816.3:c.*730G>A	NP_001139288.1:n.*730G>A
NM_001256305.2:c.*758G>A	NP_001243234.1:n.*758G>A
NM_001256306.2:c.*630G>A	NP_001243235.1:n.*630G>A
NM_001256307.2:c.*630G>A	NP_001243236.1:n.*630G>A