Canonical Allele Identifier: CA515261158

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159529G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721101G>C , CM000684.2:g.50721101G>C	GRCh38
NC_000022.10:g.51159529G>C , CM000684.1:g.51159529G>C	GRCh37
NC_000022.9:g.49506395G>C	NCBI36
NG_008607.2:g.51747G>C
NG_070230.1:g.56885G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2869G>C	ENSP00000489147.2:p.Gly957Arg
ENST00000414786.7:n.3453G>C
ENST00000445220.7:c.1921G>C	ENSP00000489407.2:p.Gly641Arg
ENST00000664402.2:c.1411G>C	ENSP00000499475.1:p.Gly471Arg
ENST00000673971.2:c.*1867G>C	ENSP00000501192.1:n.*1867G>C
ENST00000445220.6:c.1921G>C	ENSP00000489407.2:p.Gly641Arg
ENST00000262795.6:c.2869G>C	ENSP00000489147.2:p.Gly957Arg
ENST00000664402.1:c.1411G>C	ENSP00000499475.1:p.Gly471Arg
ENST00000673971.1:c.*1867G>C	ENSP00000501192.1:n.*1867G>C
ENST00000262795.5:c.3265G>C	ENSP00000489147.1:p.Gly1089Arg
ENST00000414786.6:n.3453G>C
ENST00000445220.5:c.3247G>C	ENSP00000489407.1:p.Gly1083Arg