Canonical Allele Identifier: CA515260953

Gene: SHANK3

Linked Data

• dbSNP Id: rs771780571
• gnomAD v2: 22-51159454-G-C
• gnomAD v3: 22-50721026-G-C
• gnomAD v4: 22-50721026-G-C
• MyVariant Identifiers: chr22:g.51159454G>C (hg19) ; chr22:g.50721026G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721026G>C , CM000684.2:g.50721026G>C	GRCh38
NC_000022.10:g.51159454G>C , CM000684.1:g.51159454G>C	GRCh37
NC_000022.9:g.49506320G>C	NCBI36
NG_008607.2:g.51672G>C
NG_070230.1:g.56810G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2794G>C	ENSP00000489147.2:p.Gly932Arg
ENST00000414786.7:n.3378G>C
ENST00000445220.7:c.1846G>C	ENSP00000489407.2:p.Gly616Arg
ENST00000664402.2:c.1336G>C	ENSP00000499475.1:p.Gly446Arg
ENST00000673971.2:c.*1792G>C	ENSP00000501192.1:n.*1792G>C
ENST00000445220.6:c.1846G>C	ENSP00000489407.2:p.Gly616Arg
ENST00000262795.6:c.2794G>C	ENSP00000489147.2:p.Gly932Arg
ENST00000664402.1:c.1336G>C	ENSP00000499475.1:p.Gly446Arg
ENST00000673971.1:c.*1792G>C	ENSP00000501192.1:n.*1792G>C
ENST00000262795.5:c.3190G>C	ENSP00000489147.1:p.Gly1064Arg
ENST00000414786.6:n.3378G>C
ENST00000445220.5:c.3172G>C	ENSP00000489407.1:p.Gly1058Arg