Canonical Allele Identifier: CA2243286134

Gene: SMG6

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2268343C>T , CM000679.2:g.2268343C>T	GRCh38
NC_000017.10:g.2171637C>T , CM000679.1:g.2171637C>T	GRCh37
NC_000017.9:g.2118387C>T	NCBI36
NG_033980.1:g.40433G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263073.11:c.2661+14304G>A MANE Select	ENSP00000263073.5:n.2661+14304G>A
ENST00000263073.10:c.2661+14304G>A	ENSP00000263073.5:n.2661+14304G>A
NM_017575.4:c.2661+14304G>A	NP_060045.4:n.2661+14304G>A
XM_005256569.2:c.2568+14304G>A	XP_005256626.1:n.2568+14304G>A
XM_006721494.2:c.2661+14304G>A	XP_006721557.1:n.2661+14304G>A
XM_011523769.1:c.2568+14304G>A	XP_011522071.1:n.2568+14304G>A
XM_011523770.1:c.2568+14304G>A	XP_011522072.1:n.2568+14304G>A
XM_011523771.1:c.2661+14304G>A	XP_011522073.1:n.2661+14304G>A
XM_011523772.1:c.2661+14304G>A	XP_011522074.1:n.2661+14304G>A
XM_011523774.1:c.2662-7777G>A	XP_011522076.1:n.2662-7777G>A
XM_005256569.4:c.2568+14304G>A	XP_005256626.1:n.2568+14304G>A
XM_011523769.2:c.2568+14304G>A	XP_011522071.1:n.2568+14304G>A
XM_011523772.2:c.2661+14304G>A	XP_011522074.1:n.2661+14304G>A
XM_011523774.2:c.2662-7777G>A	XP_011522076.1:n.2662-7777G>A
XM_017024398.1:c.2661+14304G>A	XP_016879887.1:n.2661+14304G>A
XM_017024399.2:c.-211+14304G>A	XP_016879888.1:n.-211+14304G>A
XM_024450681.1:c.2568+14304G>A	XP_024306449.1:n.2568+14304G>A
XR_001752459.1:n.2777+14304G>A
NM_017575.5:c.2661+14304G>A MANE Select	NP_060045.4:n.2661+14304G>A