Canonical Allele Identifier: CA515259743

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159029G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720601G>C , CM000684.2:g.50720601G>C	GRCh38
NC_000022.10:g.51159029G>C , CM000684.1:g.51159029G>C	GRCh37
NC_000022.9:g.49505895G>C	NCBI36
NG_008607.2:g.51247G>C
NG_070230.1:g.56385G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2369G>C	ENSP00000489147.2:p.Arg790Pro
ENST00000414786.7:n.2953G>C
ENST00000445220.7:c.1421G>C	ENSP00000489407.2:p.Arg474Pro
ENST00000664402.2:c.911G>C	ENSP00000499475.1:p.Arg304Pro
ENST00000673971.2:c.*1367G>C	ENSP00000501192.1:n.*1367G>C
ENST00000445220.6:c.1421G>C	ENSP00000489407.2:p.Arg474Pro
ENST00000262795.6:c.2369G>C	ENSP00000489147.2:p.Arg790Pro
ENST00000664402.1:c.911G>C	ENSP00000499475.1:p.Arg304Pro
ENST00000673971.1:c.*1367G>C	ENSP00000501192.1:n.*1367G>C
ENST00000262795.5:c.2765G>C	ENSP00000489147.1:p.Arg922Pro
ENST00000414786.6:n.2953G>C
ENST00000445220.5:c.2747G>C	ENSP00000489407.1:p.Arg916Pro