Canonical Allele Identifier: CA388272348

Gene: TBC1D4

Linked Data

• dbSNP Id: rs1457749811
• gnomAD v3: 13-75309999-C-T
• gnomAD v4: 13-75309999-C-T
• MyVariant Identifiers: chr13:g.75884135C>T (hg19) ; chr13:g.75309999C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.75309999C>T , CM000675.2:g.75309999C>T	GRCh38
NC_000013.10:g.75884135C>T , CM000675.1:g.75884135C>T	GRCh37
NC_000013.9:g.74782136C>T	NCBI36
NG_042850.1:g.177170G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377636.8:c.2536G>A MANE Select	ENSP00000366863.3:p.Ala846Thr
ENST00000648194.1:c.1804G>A	ENSP00000496983.1:p.Ala602Thr
ENST00000377625.6:c.2347G>A	ENSP00000366852.2:p.Ala783Thr
ENST00000377636.7:c.2536G>A	ENSP00000366863.3:p.Ala846Thr
ENST00000431480.6:c.2512G>A	ENSP00000395986.2:p.Ala838Thr
ENST00000493487.1:n.395G>A
NM_001286658.1:c.2512G>A	NP_001273587.1:p.Ala838Thr
NM_001286658.2:c.2512G>A	NP_001273587.1:p.Ala838Thr
NM_001286659.1:c.2347G>A	NP_001273588.1:p.Ala783Thr
NM_001286659.2:c.2347G>A	NP_001273588.1:p.Ala783Thr
NM_014832.3:c.2536G>A	NP_055647.2:p.Ala846Thr
NM_014832.4:c.2536G>A	NP_055647.2:p.Ala846Thr
XM_005266603.1:c.2461G>A	XP_005266660.1:p.Ala821Thr
XM_005266605.1:c.1993G>A	XP_005266662.1:p.Ala665Thr
XM_006719903.2:c.2062G>A	XP_006719966.1:p.Ala688Thr
XM_011535331.1:c.2425G>A	XP_011533633.1:p.Ala809Thr
XM_005266603.2:c.2461G>A	XP_005266660.1:p.Ala821Thr
XM_005266605.3:c.1993G>A	XP_005266662.1:p.Ala665Thr
XM_006719903.3:c.2062G>A	XP_006719966.1:p.Ala688Thr
XM_011535331.2:c.2425G>A	XP_011533633.1:p.Ala809Thr
XM_017020882.2:c.1804G>A	XP_016876371.1:p.Ala602Thr
XM_017020883.2:c.1693G>A	XP_016876372.1:p.Ala565Thr
XM_017020884.2:c.103G>A	XP_016876373.1:p.Ala35Thr
NM_014832.5:c.2536G>A MANE Select	NP_055647.2:p.Ala846Thr