Canonical Allele Identifier: CA346384964

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27461838T>C , CM000664.2:g.27461838T>C	GRCh38
NC_000002.11:g.27684705T>C , CM000664.1:g.27684705T>C	GRCh37
NC_000002.10:g.27538209T>C	NCBI36
NG_034068.1:g.32974A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.2116-2A>G MANE Select	NP_056477.1:n.2116-2A>G
ENST00000260570.8:c.2116-2A>G MANE Select	ENSP00000260570.3:n.2116-2A>G
NM_015662.2:c.2116-2A>G	NP_056477.1:n.2116-2A>G
ENST00000260570.7:c.2116-2A>G	ENSP00000260570.3:n.2116-2A>G
ENST00000507184.5:n.2248-2A>G
ENST00000674701.1:c.*1289-2A>G	ENSP00000502275.1:n.*1289-2A>G
ENST00000674824.1:c.*131-2A>G	ENSP00000501824.1:n.*131-2A>G
ENST00000674932.1:c.*1713-2A>G	ENSP00000501967.1:n.*1713-2A>G
ENST00000675410.1:c.1435-2A>G	ENSP00000502030.1:n.1435-2A>G
ENST00000675690.1:c.2050-2A>G	ENSP00000502283.1:n.2050-2A>G
ENST00000676119.1:c.*1406-2A>G	ENSP00000501701.1:n.*1406-2A>G
XM_005264254.1:c.2050-2A>G	XP_005264311.1:n.2050-2A>G
XM_006711986.2:c.2053-2A>G	XP_006712049.1:n.2053-2A>G
XM_006711986.3:c.2053-2A>G	XP_006712049.1:n.2053-2A>G
XM_006711987.1:c.2116-2A>G	XP_006712050.1:n.2116-2A>G
XM_011532757.1:c.1435-2A>G	XP_011531059.1:n.1435-2A>G
XM_011532757.2:c.1435-2A>G	XP_011531059.1:n.1435-2A>G
XM_011532758.1:c.2116-2A>G	XP_011531060.1:n.2116-2A>G
XM_011532759.1:c.556-2A>G	XP_011531061.1:n.556-2A>G
XM_011532759.2:c.556-2A>G	XP_011531061.1:n.556-2A>G
XM_011532760.1:c.181-2A>G	XP_011531062.1:n.181-2A>G
XM_011532760.2:c.181-2A>G	XP_011531062.1:n.181-2A>G
XM_017003790.1:c.1987-2A>G	XP_016859279.1:n.1987-2A>G
XM_017003791.1:c.1435-2A>G	XP_016859280.1:n.1435-2A>G
XM_017003792.1:c.2116-2A>G	XP_016859281.1:n.2116-2A>G
XM_017003793.1:c.253-2A>G	XP_016859282.1:n.253-2A>G
XM_017003794.1:c.253-2A>G	XP_016859283.1:n.253-2A>G
XM_017003795.1:c.49-2A>G	XP_016859284.1:n.49-2A>G
XR_001738698.1:n.2171-2A>G