Canonical Allele Identifier: CA484056347

Gene: TBC1D4

Linked Data

• gnomAD v4: 13-75309997-A-T
• MyVariant Identifiers: chr13:g.75884133A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.75309997A>T , CM000675.2:g.75309997A>T	GRCh38
NC_000013.10:g.75884133A>T , CM000675.1:g.75884133A>T	GRCh37
NC_000013.9:g.74782134A>T	NCBI36
NG_042850.1:g.177172T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377636.8:c.2538T>A MANE Select	ENSP00000366863.3:p.Ala846=
ENST00000648194.1:c.1806T>A	ENSP00000496983.1:p.Ala602=
ENST00000377625.6:c.2349T>A	ENSP00000366852.2:p.Ala783=
ENST00000377636.7:c.2538T>A	ENSP00000366863.3:p.Ala846=
ENST00000431480.6:c.2514T>A	ENSP00000395986.2:p.Ala838=
ENST00000493487.1:n.397T>A
NM_001286658.1:c.2514T>A	NP_001273587.1:p.Ala838=
NM_001286658.2:c.2514T>A	NP_001273587.1:p.Ala838=
NM_001286659.1:c.2349T>A	NP_001273588.1:p.Ala783=
NM_001286659.2:c.2349T>A	NP_001273588.1:p.Ala783=
NM_014832.3:c.2538T>A	NP_055647.2:p.Ala846=
NM_014832.4:c.2538T>A	NP_055647.2:p.Ala846=
XM_005266603.1:c.2463T>A	XP_005266660.1:p.Ala821=
XM_005266605.1:c.1995T>A	XP_005266662.1:p.Ala665=
XM_006719903.2:c.2064T>A	XP_006719966.1:p.Ala688=
XM_011535331.1:c.2427T>A	XP_011533633.1:p.Ala809=
XM_005266603.2:c.2463T>A	XP_005266660.1:p.Ala821=
XM_005266605.3:c.1995T>A	XP_005266662.1:p.Ala665=
XM_006719903.3:c.2064T>A	XP_006719966.1:p.Ala688=
XM_011535331.2:c.2427T>A	XP_011533633.1:p.Ala809=
XM_017020882.2:c.1806T>A	XP_016876371.1:p.Ala602=
XM_017020883.2:c.1695T>A	XP_016876372.1:p.Ala565=
XM_017020884.2:c.105T>A	XP_016876373.1:p.Ala35=
NM_014832.5:c.2538T>A MANE Select	NP_055647.2:p.Ala846=