Canonical Allele Identifier: CA1796805231
Gene: TPD52 HGNC NCBI

Linked Data

dbSNP Id: rs1808105448

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.80119548A>C , CM000670.2:g.80119548A>C GRCh38
NC_000008.10:g.81031783A>C , CM000670.1:g.81031783A>C GRCh37
NC_000008.9:g.81194338A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000518937.6:c.19+51877T>G MANE Select ENSP00000429915.1:n.19+51877T>G
ENST00000379096.9:c.19+51877T>G ENSP00000368390.4:n.19+51877T>G
ENST00000518517.5:c.89+267T>G ENSP00000430421.1:n.89+267T>G
ENST00000518937.5:c.19+51877T>G ENSP00000429915.1:n.19+51877T>G
ENST00000519250.5:n.236-54955T>G
ENST00000519303.6:c.-423+51473T>G ENSP00000428951.1:n.-423+51473T>G
ENST00000520795.5:c.177+51659T>G
ENST00000521241.6:c.19+51877T>G ENSP00000430323.1:n.19+51877T>G
ENST00000521354.5:c.19+51877T>G ENSP00000430646.1:n.19+51877T>G
ENST00000521561.1:n.451+38889T>G
ENST00000523753.5:c.89+267T>G ENSP00000430140.1:n.89+267T>G
NM_001025253.2:c.19+51877T>G NP_001020424.1:n.19+51877T>G
NM_001287144.1:c.19+51877T>G NP_001274073.1:n.19+51877T>G
NM_005079.3:c.19+51877T>G NP_005070.1:n.19+51877T>G
NR_105034.1:n.235+51877T>G
NR_105035.1:n.305+267T>G
NR_105036.1:n.180+51473T>G
NR_105037.1:n.250+267T>G
NM_001025253.3:c.19+51877T>G MANE Select NP_001020424.1:n.19+51877T>G
NM_001287144.2:c.19+51877T>G NP_001274073.1:n.19+51877T>G
NM_005079.4:c.19+51877T>G NP_005070.1:n.19+51877T>G
NR_105034.2:n.140+51877T>G
NR_105035.2:n.210+267T>G
NR_105036.2:n.101+51473T>G
NR_105037.2:n.171+267T>G
NM_001387778.1:c.19+51877T>G NP_001374707.1:n.19+51877T>G
NM_001387779.1:c.19+51877T>G NP_001374708.1:n.19+51877T>G
NM_001387780.1:c.-65-9613T>G NP_001374709.1:n.-65-9613T>G
NR_170693.1:n.140+51877T>G
NR_170694.1:n.140+51877T>G