Canonical Allele Identifier: CA411381654

Gene: IFT27 CACNG2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36762962G>T , CM000684.2:g.36762962G>T	GRCh38
NC_000022.10:g.37159006G>T , CM000684.1:g.37159006G>T	GRCh37
NC_000022.9:g.35488952G>T	NCBI36
NG_034205.1:g.18172C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001177701.3:c.404C>A (IFT27) MANE Select	NP_001171172.1:p.Ser135Ter
ENST00000433985.7:c.404C>A (IFT27) MANE Select	ENSP00000393541.2:p.Ser135Ter
NM_001177701.2:c.404C>A (IFT27)	NP_001171172.1:p.Ser135Ter
NM_001363003.1:c.404C>A (IFT27)	NP_001349932.1:p.Ser135Ter
NM_001363003.2:c.404C>A (IFT27)	NP_001349932.1:p.Ser135Ter
NM_006860.4:c.401C>A (IFT27)	NP_006851.1:p.Ser134Ter
NM_006860.5:c.401C>A (IFT27)	NP_006851.1:p.Ser134Ter
NR_134623.1:n.238-3382G>T (CACNG2-DT)
ENST00000340630.9:c.401C>A (IFT27)	ENSP00000343593.5:p.Ser134Ter
ENST00000415653.5:c.327C>A (IFT27)
ENST00000417951.6:c.521C>A (IFT27)	ENSP00000392016.2:p.Ser174Ter
ENST00000433985.6:c.404C>A (IFT27)	ENSP00000393541.2:p.Ser135Ter
ENST00000471809.5:n.1724C>A (IFT27)
ENST00000495555.6:n.487C>A (IFT27)
XM_006724106.2:c.404C>A (IFT27)	XP_006724169.1:p.Ser135Ter
XM_017028540.2:c.281C>A (IFT27)	XP_016884029.1:p.Ser94Ter