Canonical Allele Identifier: CA252114864

Gene: TBC1D4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.75286668C>A , CM000675.2:g.75286668C>A	GRCh38
NC_000013.10:g.75860804C>A , CM000675.1:g.75860804C>A	GRCh37
NC_000013.9:g.74758805C>A	NCBI36
NG_042850.1:g.200501G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014832.5:c.*124G>T MANE Select	NP_055647.2:n.*124G>T
ENST00000377636.8:c.*124G>T MANE Select	ENSP00000366863.3:n.*124G>T
NM_001286658.1:c.*124G>T	NP_001273587.1:n.*124G>T
NM_001286658.2:c.*124G>T	NP_001273587.1:n.*124G>T
NM_001286659.1:c.*124G>T	NP_001273588.1:n.*124G>T
NM_001286659.2:c.*124G>T	NP_001273588.1:n.*124G>T
NM_014832.3:c.*124G>T	NP_055647.2:n.*124G>T
NM_014832.4:c.*124G>T	NP_055647.2:n.*124G>T
ENST00000377625.6:c.*124G>T	ENSP00000366852.2:n.*124G>T
ENST00000377636.7:c.*124G>T	ENSP00000366863.3:n.*124G>T
ENST00000431480.6:c.*124G>T	ENSP00000395986.2:n.*124G>T
ENST00000648194.1:c.*124G>T	ENSP00000496983.1:n.*124G>T
XM_005266603.1:c.*124G>T	XP_005266660.1:n.*124G>T
XM_005266603.2:c.*124G>T	XP_005266660.1:n.*124G>T
XM_005266605.1:c.*124G>T	XP_005266662.1:n.*124G>T
XM_005266605.3:c.*124G>T	XP_005266662.1:n.*124G>T
XM_006719903.2:c.*124G>T	XP_006719966.1:n.*124G>T
XM_006719903.3:c.*124G>T	XP_006719966.1:n.*124G>T
XM_011535331.1:c.*124G>T	XP_011533633.1:n.*124G>T
XM_011535331.2:c.*124G>T	XP_011533633.1:n.*124G>T
XM_017020882.2:c.*124G>T	XP_016876371.1:n.*124G>T
XM_017020883.2:c.*124G>T	XP_016876372.1:n.*124G>T
XM_017020884.2:c.*124G>T	XP_016876373.1:n.*124G>T