Canonical Allele Identifier: CA1115770036

Gene: TPD52

Linked Data

• gnomAD v3: 8-80119602-G-A
• gnomAD v4: 8-80119602-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.80119602G>A , CM000670.2:g.80119602G>A	GRCh38
NC_000008.10:g.81031837G>A , CM000670.1:g.81031837G>A	GRCh37
NC_000008.9:g.81194392G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000518937.6:c.19+51823C>T MANE Select	ENSP00000429915.1:n.19+51823C>T
ENST00000379096.9:c.19+51823C>T	ENSP00000368390.4:n.19+51823C>T
ENST00000518517.5:c.89+213C>T	ENSP00000430421.1:n.89+213C>T
ENST00000518937.5:c.19+51823C>T	ENSP00000429915.1:n.19+51823C>T
ENST00000519250.5:n.236-55009C>T
ENST00000519303.6:c.-423+51419C>T	ENSP00000428951.1:n.-423+51419C>T
ENST00000520795.5:c.177+51605C>T
ENST00000521241.6:c.19+51823C>T	ENSP00000430323.1:n.19+51823C>T
ENST00000521354.5:c.19+51823C>T	ENSP00000430646.1:n.19+51823C>T
ENST00000521561.1:n.451+38835C>T
ENST00000523753.5:c.89+213C>T	ENSP00000430140.1:n.89+213C>T
NM_001025253.2:c.19+51823C>T	NP_001020424.1:n.19+51823C>T
NM_001287144.1:c.19+51823C>T	NP_001274073.1:n.19+51823C>T
NM_005079.3:c.19+51823C>T	NP_005070.1:n.19+51823C>T
NR_105034.1:n.235+51823C>T
NR_105035.1:n.305+213C>T
NR_105036.1:n.180+51419C>T
NR_105037.1:n.250+213C>T
NM_001025253.3:c.19+51823C>T MANE Select	NP_001020424.1:n.19+51823C>T
NM_001287144.2:c.19+51823C>T	NP_001274073.1:n.19+51823C>T
NM_005079.4:c.19+51823C>T	NP_005070.1:n.19+51823C>T
NR_105034.2:n.140+51823C>T
NR_105035.2:n.210+213C>T
NR_105036.2:n.101+51419C>T
NR_105037.2:n.171+213C>T
NM_001387778.1:c.19+51823C>T	NP_001374707.1:n.19+51823C>T
NM_001387779.1:c.19+51823C>T	NP_001374708.1:n.19+51823C>T
NM_001387780.1:c.-65-9667C>T	NP_001374709.1:n.-65-9667C>T
NR_170693.1:n.140+51823C>T
NR_170694.1:n.140+51823C>T