Canonical Allele Identifier: CA14414263

Gene: TBCD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82806135G>A , CM000679.2:g.82806135G>A	GRCh38
NC_000017.10:g.80764011G>A , CM000679.1:g.80764011G>A	GRCh37
NC_000017.9:g.78357300G>A	NCBI36
NG_011721.1:g.59072G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005993.5:c.1087+124G>A MANE Select	NP_005984.3:n.1087+124G>A
ENST00000355528.9:c.1087+124G>A MANE Select	ENSP00000347719.4:n.1087+124G>A
NM_005993.4:c.1087+124G>A	NP_005984.3:n.1087+124G>A
ENST00000355528.8:c.1087+124G>A	ENSP00000347719.4:n.1087+124G>A
ENST00000539345.6:c.1087+124G>A	ENSP00000440671.2:n.1087+124G>A
ENST00000681983.1:n.1223+124G>A
ENST00000682107.1:n.1207+124G>A
ENST00000682213.1:c.1087+124G>A	ENSP00000508166.1:n.1087+124G>A
ENST00000682479.1:c.1177+124G>A	ENSP00000508214.1:n.1177+124G>A
ENST00000682610.1:n.327+124G>A
ENST00000682722.1:c.1036+124G>A	ENSP00000508364.1:n.1036+124G>A
ENST00000682921.1:n.1071-3573G>A
ENST00000683009.1:n.1207+124G>A
ENST00000683041.1:c.1087+124G>A	ENSP00000506994.1:n.1087+124G>A
ENST00000683184.1:c.*740+124G>A	ENSP00000507757.1:n.*740+124G>A
ENST00000683282.1:c.1087+124G>A	ENSP00000506913.1:n.1087+124G>A
ENST00000683444.1:c.*664+124G>A	ENSP00000507553.1:n.*664+124G>A
ENST00000684000.1:c.1171+124G>A	ENSP00000506795.1:n.1171+124G>A
ENST00000684188.1:c.898+124G>A	ENSP00000507153.1:n.898+124G>A
ENST00000684349.1:c.1087+124G>A	ENSP00000508067.1:n.1087+124G>A
ENST00000684361.1:c.1087+124G>A	ENSP00000507364.1:n.1087+124G>A
ENST00000684408.1:c.1087+124G>A	ENSP00000506837.1:n.1087+124G>A
ENST00000684429.1:c.1015+124G>A	ENSP00000507224.1:n.1015+124G>A
ENST00000684464.1:c.1087+124G>A	ENSP00000508333.1:n.1087+124G>A
ENST00000684544.1:c.1087+124G>A	ENSP00000507337.1:n.1087+124G>A
ENST00000684760.1:c.1087+124G>A	ENSP00000507696.1:n.1087+124G>A
ENST00000684776.1:c.1087+124G>A	ENSP00000507861.1:n.1087+124G>A
XM_005256396.3:c.1036+124G>A	XP_005256453.1:n.1036+124G>A
XM_005256396.4:c.1036+124G>A	XP_005256453.1:n.1036+124G>A
XM_006722290.2:c.1087+124G>A	XP_006722353.1:n.1087+124G>A
XM_011523589.1:c.742+124G>A	XP_011521891.1:n.742+124G>A
XM_011523589.2:c.742+124G>A	XP_011521891.1:n.742+124G>A
XM_011523590.1:c.1087+124G>A	XP_011521892.1:n.1087+124G>A
XM_011523591.1:c.727+124G>A	XP_011521893.1:n.727+124G>A
XM_011523591.2:c.727+124G>A	XP_011521893.1:n.727+124G>A
XM_011523592.1:c.640+124G>A	XP_011521894.1:n.640+124G>A
XM_011523593.1:c.334+124G>A	XP_011521895.1:n.334+124G>A
XM_011523593.2:c.334+124G>A	XP_011521895.1:n.334+124G>A
XM_011523596.1:c.1087+124G>A	XP_011521898.1:n.1087+124G>A
XM_017024987.1:c.898+124G>A	XP_016880476.1:n.898+124G>A
XM_017024988.1:c.1087+124G>A	XP_016880477.1:n.1087+124G>A
XR_001752597.1:n.1195+124G>A
XR_001752598.1:n.1195+124G>A
XR_001752599.1:n.1195+124G>A
XR_001752600.1:n.1195+124G>A
XR_430033.2:n.1195+124G>A