Canonical Allele Identifier: CA8279313

Gene: SMG6 SRR

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2303657G>C , CM000679.2:g.2303657G>C	GRCh38
NC_000017.10:g.2206951G>C , CM000679.1:g.2206951G>C	GRCh37
NC_000017.9:g.2153701G>C	NCBI36
NG_033980.1:g.5119C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_017575.5:c.64C>G (SMG6) MANE Select	NP_060045.4:p.Leu22Val
ENST00000263073.11:c.64C>G (SMG6) MANE Select	ENSP00000263073.5:p.Leu22Val
NM_017575.4:c.64C>G (SMG6)	NP_060045.4:p.Leu22Val
ENST00000263073.10:c.64C>G (SMG6)	ENSP00000263073.5:p.Leu22Val
ENST00000572709.5:c.-5+180G>C (SRR)	ENSP00000458814.1:n.-5+180G>C
XM_005256570.2:c.64C>G (SMG6)	XP_005256627.1:p.Leu22Val
XM_005256570.3:c.64C>G (SMG6)	XP_005256627.1:p.Leu22Val
XM_006721494.2:c.64C>G (SMG6)	XP_006721557.1:p.Leu22Val
XM_006721495.2:c.64C>G (SMG6)	XP_006721558.1:p.Leu22Val
XM_006721565.2:c.-5+180G>C (SRR)	XP_006721628.1:n.-5+180G>C
XM_006721565.3:c.-5+180G>C (SRR)	XP_006721628.1:n.-5+180G>C
XM_011523769.1:c.-173C>G (SMG6)	XP_011522071.1:n.-173C>G
XM_011523769.2:c.-173C>G (SMG6)	XP_011522071.1:n.-173C>G
XM_011523771.1:c.64C>G (SMG6)	XP_011522073.1:p.Leu22Val
XM_011523772.1:c.64C>G (SMG6)	XP_011522074.1:p.Leu22Val
XM_011523772.2:c.64C>G (SMG6)	XP_011522074.1:p.Leu22Val
XM_011523773.1:c.64C>G (SMG6)	XP_011522075.1:p.Leu22Val
XM_011523773.2:c.64C>G (SMG6)	XP_011522075.1:p.Leu22Val
XM_011523774.1:c.64C>G (SMG6)	XP_011522076.1:p.Leu22Val
XM_011523774.2:c.64C>G (SMG6)	XP_011522076.1:p.Leu22Val
XM_017024398.1:c.64C>G (SMG6)	XP_016879887.1:p.Leu22Val
XM_024450681.1:c.-371C>G (SMG6)	XP_024306449.1:n.-371C>G
XR_001752459.1:n.180C>G (SMG6)