Canonical Allele Identifier: CA388272288

Gene: TBC1D4

Linked Data

• MyVariant Identifiers: chr13:g.75884127G>T (hg19) ; chr13:g.75309991G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.75309991G>T , CM000675.2:g.75309991G>T	GRCh38
NC_000013.10:g.75884127G>T , CM000675.1:g.75884127G>T	GRCh37
NC_000013.9:g.74782128G>T	NCBI36
NG_042850.1:g.177178C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000377636.8:c.2544C>A MANE Select	ENSP00000366863.3:p.His848Gln
ENST00000648194.1:c.1812C>A	ENSP00000496983.1:p.His604Gln
ENST00000377625.6:c.2355C>A	ENSP00000366852.2:p.His785Gln
ENST00000377636.7:c.2544C>A	ENSP00000366863.3:p.His848Gln
ENST00000431480.6:c.2520C>A	ENSP00000395986.2:p.His840Gln
ENST00000493487.1:n.403C>A
NM_001286658.1:c.2520C>A	NP_001273587.1:p.His840Gln
NM_001286658.2:c.2520C>A	NP_001273587.1:p.His840Gln
NM_001286659.1:c.2355C>A	NP_001273588.1:p.His785Gln
NM_001286659.2:c.2355C>A	NP_001273588.1:p.His785Gln
NM_014832.3:c.2544C>A	NP_055647.2:p.His848Gln
NM_014832.4:c.2544C>A	NP_055647.2:p.His848Gln
XM_005266603.1:c.2469C>A	XP_005266660.1:p.His823Gln
XM_005266605.1:c.2001C>A	XP_005266662.1:p.His667Gln
XM_006719903.2:c.2070C>A	XP_006719966.1:p.His690Gln
XM_011535331.1:c.2433C>A	XP_011533633.1:p.His811Gln
XM_005266603.2:c.2469C>A	XP_005266660.1:p.His823Gln
XM_005266605.3:c.2001C>A	XP_005266662.1:p.His667Gln
XM_006719903.3:c.2070C>A	XP_006719966.1:p.His690Gln
XM_011535331.2:c.2433C>A	XP_011533633.1:p.His811Gln
XM_017020882.2:c.1812C>A	XP_016876371.1:p.His604Gln
XM_017020883.2:c.1701C>A	XP_016876372.1:p.His567Gln
XM_017020884.2:c.111C>A	XP_016876373.1:p.His37Gln
NM_014832.5:c.2544C>A MANE Select	NP_055647.2:p.His848Gln