Canonical Allele Identifier: CA390467979

Gene: TGFB3 IFT43

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75961018C>G , CM000676.2:g.75961018C>G	GRCh38
NC_000014.8:g.76427361C>G , CM000676.1:g.76427361C>G	GRCh37
NC_000014.7:g.75497114C>G	NCBI36
NG_011715.1:g.25732G>C , LRG_399:g.25732G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003239.5:c.985G>C (TGFB3) MANE Select	NP_003230.1:p.Gly329Arg
ENST00000238682.8:c.985G>C (TGFB3) MANE Select	ENSP00000238682.3:p.Gly329Arg
NM_001329939.1:c.985G>C (TGFB3)	NP_001316868.1:p.Gly329Arg
NM_001329939.2:c.985G>C (TGFB3)	NP_001316868.1:p.Gly329Arg
NM_003239.3:c.985G>C (TGFB3)	NP_003230.1:p.Gly329Arg
NM_003239.4:c.985G>C (TGFB3)	NP_003230.1:p.Gly329Arg
ENST00000238682.7:c.985G>C (TGFB3)	ENSP00000238682.3:p.Gly329Arg
ENST00000554980.5:n.1366G>C (TGFB3)
ENST00000555677.5:n.90-27867C>G (IFT43)
ENST00000556674.2:c.985G>C (TGFB3)	ENSP00000502685.1:p.Gly329Arg
ENST00000557493.1:n.451G>C (TGFB3)
XM_005268028.1:c.985G>C (TGFB3)	XP_005268085.1:p.Gly329Arg