Canonical Allele Identifier: CA14443230

Gene: SMG6

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2214651A>G , CM000679.2:g.2214651A>G	GRCh38
NC_000017.10:g.2117945A>G , CM000679.1:g.2117945A>G	GRCh37
NC_000017.9:g.2064695A>G	NCBI36
NG_033980.1:g.94125T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263073.11:c.2869+21841T>C MANE Select	ENSP00000263073.5:n.2869+21841T>C
ENST00000263073.10:c.2869+21841T>C	ENSP00000263073.5:n.2869+21841T>C
ENST00000354901.8:c.145+21841T>C	ENSP00000346977.4:n.145+21841T>C
ENST00000536871.6:c.145+21841T>C	ENSP00000440283.2:n.145+21841T>C
ENST00000570606.5:c.145+21841T>C	ENSP00000460191.1:n.145+21841T>C
ENST00000570659.5:c.145+21841T>C	ENSP00000460898.1:n.145+21841T>C
ENST00000570668.1:c.145+21841T>C	ENSP00000460301.1:n.145+21841T>C
ENST00000571442.5:c.145+21841T>C	ENSP00000459164.1:n.145+21841T>C
ENST00000572205.5:c.-63+14672T>C	ENSP00000466951.1:n.-63+14672T>C
ENST00000575663.5:c.145+21841T>C	ENSP00000458635.1:n.145+21841T>C
NM_001256827.1:c.145+21841T>C	NP_001243756.1:n.145+21841T>C
NM_001256828.1:c.145+21841T>C	NP_001243757.1:n.145+21841T>C
NM_017575.4:c.2869+21841T>C	NP_060045.4:n.2869+21841T>C
XM_005256569.2:c.2776+21841T>C	XP_005256626.1:n.2776+21841T>C
XM_005256571.3:c.145+21841T>C	XP_005256628.1:n.145+21841T>C
XM_011523769.1:c.2776+21841T>C	XP_011522071.1:n.2776+21841T>C
XM_011523770.1:c.2776+21841T>C	XP_011522072.1:n.2776+21841T>C
XM_011523771.1:c.2869+21841T>C	XP_011522073.1:n.2869+21841T>C
XM_011523772.1:c.2870-19737T>C	XP_011522074.1:n.2870-19737T>C
XM_011523775.1:c.145+21841T>C	XP_011522077.1:n.145+21841T>C
XR_934148.1:n.4789A>G
XR_934149.1:n.4270A>G
XR_934150.1:n.3794A>G
XR_934151.1:n.3952A>G
XM_005256569.4:c.2776+21841T>C	XP_005256626.1:n.2776+21841T>C
XM_005256571.5:c.145+21841T>C	XP_005256628.1:n.145+21841T>C
XM_011523769.2:c.2776+21841T>C	XP_011522071.1:n.2776+21841T>C
XM_011523772.2:c.2870-19737T>C	XP_011522074.1:n.2870-19737T>C
XM_011523775.2:c.145+21841T>C	XP_011522077.1:n.145+21841T>C
XM_017024399.2:c.145+21841T>C	XP_016879888.1:n.145+21841T>C
XM_024450681.1:c.2776+21841T>C	XP_024306449.1:n.2776+21841T>C
NM_017575.5:c.2869+21841T>C MANE Select	NP_060045.4:n.2869+21841T>C
NM_001256827.2:c.145+21841T>C	NP_001243756.1:n.145+21841T>C