Canonical Allele Identifier: CA2147718807

Gene: TGFB3 IFT43

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75961072A= , CM000676.2:g.75961072A=	GRCh38
NC_000014.8:g.76427415A= , CM000676.1:g.76427415A=	GRCh37
NC_000014.7:g.75497168A=	NCBI36
NG_011715.1:g.25678T= , LRG_399:g.25678T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.931T= (TGFB3) MANE Select	ENSP00000238682.3:p.Leu311=
ENST00000556674.2:c.931T= (TGFB3)	ENSP00000502685.1:p.Leu311=
ENST00000238682.7:c.931T= (TGFB3)	ENSP00000238682.3:p.Leu311=
ENST00000554980.5:n.1312T= (TGFB3)
ENST00000555677.5:n.90-27813A= (IFT43)
ENST00000557493.1:n.397T= (TGFB3)
NM_003239.3:c.931T= (TGFB3)	NP_003230.1:p.Leu311=
XM_005268028.1:c.931T= (TGFB3)	XP_005268085.1:p.Leu311=
NM_001329939.1:c.931T= (TGFB3)	NP_001316868.1:p.Leu311=
NM_003239.4:c.931T= (TGFB3)	NP_003230.1:p.Leu311=
NM_001329939.2:c.931T= (TGFB3)	NP_001316868.1:p.Leu311=
NM_003239.5:c.931T= (TGFB3) MANE Select	NP_003230.1:p.Leu311=