Canonical Allele Identifier: CA515255174

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51136107G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697679G>C , CM000684.2:g.50697679G>C	GRCh38
NC_000022.10:g.51136107G>C , CM000684.1:g.51136107G>C	GRCh37
NC_000022.9:g.49482973G>C	NCBI36
NG_008607.2:g.28325G>C
NG_070230.1:g.33544G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1063G>C	ENSP00000489147.2:p.Gly355Arg
ENST00000414786.7:n.1647G>C
ENST00000445220.7:c.115G>C	ENSP00000489407.2:p.Gly39Arg
ENST00000673971.2:c.1420G>C	ENSP00000501192.1:p.Gly474Arg
ENST00000445220.6:c.115G>C	ENSP00000489407.2:p.Gly39Arg
ENST00000262795.6:c.1063G>C	ENSP00000489147.2:p.Gly355Arg
ENST00000673971.1:c.1420G>C	ENSP00000501192.1:p.Gly474Arg
ENST00000673995.1:c.116G>C
ENST00000262795.5:c.1459G>C	ENSP00000489147.1:p.Gly487Arg
ENST00000414786.6:n.1647G>C
ENST00000445220.5:c.1441G>C	ENSP00000489407.1:p.Gly481Arg