Canonical Allele Identifier: CA515262689

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159937G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721509G>C , CM000684.2:g.50721509G>C	GRCh38
NC_000022.10:g.51159937G>C , CM000684.1:g.51159937G>C	GRCh37
NC_000022.9:g.49506803G>C	NCBI36
NG_008607.2:g.52155G>C
NG_070230.1:g.57293G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3277G>C	ENSP00000489147.2:p.Gly1093Arg
ENST00000414786.7:n.3861G>C
ENST00000445220.7:c.2329G>C	ENSP00000489407.2:p.Gly777Arg
ENST00000664402.2:c.1819G>C	ENSP00000499475.1:p.Gly607Arg
ENST00000673971.2:c.*2275G>C	ENSP00000501192.1:n.*2275G>C
ENST00000445220.6:c.2329G>C	ENSP00000489407.2:p.Gly777Arg
ENST00000262795.6:c.3277G>C	ENSP00000489147.2:p.Gly1093Arg
ENST00000664402.1:c.1819G>C	ENSP00000499475.1:p.Gly607Arg
ENST00000673971.1:c.*2275G>C	ENSP00000501192.1:n.*2275G>C
ENST00000262795.5:c.3673G>C	ENSP00000489147.1:p.Gly1225Arg
ENST00000414786.6:n.3861G>C
ENST00000445220.5:c.3655G>C	ENSP00000489407.1:p.Gly1219Arg