Canonical Allele Identifier: CA2838359719

Gene: SMG6

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2090161C>T , CM000679.2:g.2090161C>T	GRCh38
NC_000017.10:g.1993455C>T , CM000679.1:g.1993455C>T	GRCh37
NC_000017.9:g.1940205C>T	NCBI36
NG_033980.1:g.218615G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263073.11:c.3358-4260G>A MANE Select	ENSP00000263073.5:n.3358-4260G>A
ENST00000263073.10:c.3358-4260G>A	ENSP00000263073.5:n.3358-4260G>A
ENST00000354901.8:c.634-4260G>A	ENSP00000346977.4:n.634-4260G>A
ENST00000536871.6:c.634-4260G>A	ENSP00000440283.2:n.634-4260G>A
ENST00000570874.1:n.415-4260G>A
ENST00000575338.1:n.329-4260G>A
ENST00000575454.1:c.256-4260G>A	ENSP00000460273.2:n.256-4260G>A
NM_001256827.1:c.634-4260G>A	NP_001243756.1:n.634-4260G>A
NM_001256828.1:c.634-4260G>A	NP_001243757.1:n.634-4260G>A
NM_017575.4:c.3358-4260G>A	NP_060045.4:n.3358-4260G>A
XM_005256569.2:c.3265-4260G>A	XP_005256626.1:n.3265-4260G>A
XM_005256571.3:c.634-4260G>A	XP_005256628.1:n.634-4260G>A
XM_011523769.1:c.3265-4260G>A	XP_011522071.1:n.3265-4260G>A
XM_011523770.1:c.3265-4260G>A	XP_011522072.1:n.3265-4260G>A
XM_011523771.1:c.3358-2982G>A	XP_011522073.1:n.3358-2982G>A
XM_011523775.1:c.634-4260G>A	XP_011522077.1:n.634-4260G>A
XM_005256569.4:c.3265-4260G>A	XP_005256626.1:n.3265-4260G>A
XM_005256571.5:c.634-4260G>A	XP_005256628.1:n.634-4260G>A
XM_011523769.2:c.3265-4260G>A	XP_011522071.1:n.3265-4260G>A
XM_011523775.2:c.634-4260G>A	XP_011522077.1:n.634-4260G>A
XM_017024399.2:c.634-4260G>A	XP_016879888.1:n.634-4260G>A
XM_024450681.1:c.3265-4260G>A	XP_024306449.1:n.3265-4260G>A
NM_017575.5:c.3358-4260G>A MANE Select	NP_060045.4:n.3358-4260G>A
NM_001256827.2:c.634-4260G>A	NP_001243756.1:n.634-4260G>A