Canonical Allele Identifier: CA2623267217

Gene: TBC1D4

Linked Data

• gnomAD v4: 13-75309912-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.75309912C>G , CM000675.2:g.75309912C>G	GRCh38
NC_000013.10:g.75884048C>G , CM000675.1:g.75884048C>G	GRCh37
NC_000013.9:g.74782049C>G	NCBI36
NG_042850.1:g.177257G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000377636.8:c.2593+30G>C MANE Select	ENSP00000366863.3:n.2593+30G>C
ENST00000648194.1:c.1861+30G>C	ENSP00000496983.1:n.1861+30G>C
ENST00000377625.6:c.2404+30G>C	ENSP00000366852.2:n.2404+30G>C
ENST00000377636.7:c.2593+30G>C	ENSP00000366863.3:n.2593+30G>C
ENST00000431480.6:c.2569+30G>C	ENSP00000395986.2:n.2569+30G>C
ENST00000493487.1:n.452+30G>C
NM_001286658.1:c.2569+30G>C	NP_001273587.1:n.2569+30G>C
NM_001286658.2:c.2569+30G>C	NP_001273587.1:n.2569+30G>C
NM_001286659.1:c.2404+30G>C	NP_001273588.1:n.2404+30G>C
NM_001286659.2:c.2404+30G>C	NP_001273588.1:n.2404+30G>C
NM_014832.3:c.2593+30G>C	NP_055647.2:n.2593+30G>C
NM_014832.4:c.2593+30G>C	NP_055647.2:n.2593+30G>C
XM_005266603.1:c.2518+30G>C	XP_005266660.1:n.2518+30G>C
XM_005266605.1:c.2050+30G>C	XP_005266662.1:n.2050+30G>C
XM_006719903.2:c.2119+30G>C	XP_006719966.1:n.2119+30G>C
XM_011535331.1:c.2482+30G>C	XP_011533633.1:n.2482+30G>C
XM_005266603.2:c.2518+30G>C	XP_005266660.1:n.2518+30G>C
XM_005266605.3:c.2050+30G>C	XP_005266662.1:n.2050+30G>C
XM_006719903.3:c.2119+30G>C	XP_006719966.1:n.2119+30G>C
XM_011535331.2:c.2482+30G>C	XP_011533633.1:n.2482+30G>C
XM_017020882.2:c.1861+30G>C	XP_016876371.1:n.1861+30G>C
XM_017020883.2:c.1750+30G>C	XP_016876372.1:n.1750+30G>C
XM_017020884.2:c.160+30G>C	XP_016876373.1:n.160+30G>C
NM_014832.5:c.2593+30G>C MANE Select	NP_055647.2:n.2593+30G>C