Canonical Allele Identifier: CA14443250

Gene: SMG6

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2240166G>T , CM000679.2:g.2240166G>T	GRCh38
NC_000017.10:g.2143460G>T , CM000679.1:g.2143460G>T	GRCh37
NC_000017.9:g.2090210G>T	NCBI36
NG_033980.1:g.68610C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263073.11:c.2724-3529C>A MANE Select	ENSP00000263073.5:n.2724-3529C>A
ENST00000263073.10:c.2724-3529C>A	ENSP00000263073.5:n.2724-3529C>A
ENST00000354901.8:c.-1-3529C>A	ENSP00000346977.4:n.-1-3529C>A
ENST00000570606.5:c.-1-3529C>A	ENSP00000460191.1:n.-1-3529C>A
ENST00000570659.5:c.-1-3529C>A	ENSP00000460898.1:n.-1-3529C>A
ENST00000570668.1:c.-165C>A	ENSP00000460301.1:n.-165C>A
NM_001256827.1:c.-1-3529C>A	NP_001243756.1:n.-1-3529C>A
NM_017575.4:c.2724-3529C>A	NP_060045.4:n.2724-3529C>A
XM_005256569.2:c.2631-3529C>A	XP_005256626.1:n.2631-3529C>A
XM_011523769.1:c.2631-3529C>A	XP_011522071.1:n.2631-3529C>A
XM_011523770.1:c.2631-3529C>A	XP_011522072.1:n.2631-3529C>A
XM_011523771.1:c.2724-3529C>A	XP_011522073.1:n.2724-3529C>A
XM_011523772.1:c.2724-3529C>A	XP_011522074.1:n.2724-3529C>A
XM_011523775.1:c.-1-3529C>A	XP_011522077.1:n.-1-3529C>A
XM_005256569.4:c.2631-3529C>A	XP_005256626.1:n.2631-3529C>A
XM_011523769.2:c.2631-3529C>A	XP_011522071.1:n.2631-3529C>A
XM_011523772.2:c.2724-3529C>A	XP_011522074.1:n.2724-3529C>A
XM_011523775.2:c.-1-3529C>A	XP_011522077.1:n.-1-3529C>A
XM_017024398.1:c.*715C>A	XP_016879887.1:n.*715C>A
XM_017024399.2:c.-1-3529C>A	XP_016879888.1:n.-1-3529C>A
XM_024450681.1:c.2631-3529C>A	XP_024306449.1:n.2631-3529C>A
XR_001752459.1:n.2987-3529C>A
NM_017575.5:c.2724-3529C>A MANE Select	NP_060045.4:n.2724-3529C>A
NM_001256827.2:c.-1-3529C>A	NP_001243756.1:n.-1-3529C>A