Canonical Allele Identifier: CA2623267219
Gene: TBC1D4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.75309924T>A , CM000675.2:g.75309924T>A GRCh38
NC_000013.10:g.75884060T>A , CM000675.1:g.75884060T>A GRCh37
NC_000013.9:g.74782061T>A NCBI36
NG_042850.1:g.177245A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377636.8:c.2593+18A>T MANE Select ENSP00000366863.3:n.2593+18A>T
ENST00000648194.1:c.1861+18A>T ENSP00000496983.1:n.1861+18A>T
ENST00000377625.6:c.2404+18A>T ENSP00000366852.2:n.2404+18A>T
ENST00000377636.7:c.2593+18A>T ENSP00000366863.3:n.2593+18A>T
ENST00000431480.6:c.2569+18A>T ENSP00000395986.2:n.2569+18A>T
ENST00000493487.1:n.452+18A>T
NM_001286658.1:c.2569+18A>T NP_001273587.1:n.2569+18A>T
NM_001286658.2:c.2569+18A>T NP_001273587.1:n.2569+18A>T
NM_001286659.1:c.2404+18A>T NP_001273588.1:n.2404+18A>T
NM_001286659.2:c.2404+18A>T NP_001273588.1:n.2404+18A>T
NM_014832.3:c.2593+18A>T NP_055647.2:n.2593+18A>T
NM_014832.4:c.2593+18A>T NP_055647.2:n.2593+18A>T
XM_005266603.1:c.2518+18A>T XP_005266660.1:n.2518+18A>T
XM_005266605.1:c.2050+18A>T XP_005266662.1:n.2050+18A>T
XM_006719903.2:c.2119+18A>T XP_006719966.1:n.2119+18A>T
XM_011535331.1:c.2482+18A>T XP_011533633.1:n.2482+18A>T
XM_005266603.2:c.2518+18A>T XP_005266660.1:n.2518+18A>T
XM_005266605.3:c.2050+18A>T XP_005266662.1:n.2050+18A>T
XM_006719903.3:c.2119+18A>T XP_006719966.1:n.2119+18A>T
XM_011535331.2:c.2482+18A>T XP_011533633.1:n.2482+18A>T
XM_017020882.2:c.1861+18A>T XP_016876371.1:n.1861+18A>T
XM_017020883.2:c.1750+18A>T XP_016876372.1:n.1750+18A>T
XM_017020884.2:c.160+18A>T XP_016876373.1:n.160+18A>T
NM_014832.5:c.2593+18A>T MANE Select NP_055647.2:n.2593+18A>T