Canonical Allele Identifier: CA515260125

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720730-G-C
• MyVariant Identifiers: chr22:g.51159158G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720730G>C , CM000684.2:g.50720730G>C	GRCh38
NC_000022.10:g.51159158G>C , CM000684.1:g.51159158G>C	GRCh37
NC_000022.9:g.49506024G>C	NCBI36
NG_008607.2:g.51376G>C
NG_070230.1:g.56514G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2498G>C	ENSP00000489147.2:p.Arg833Pro
ENST00000414786.7:n.3082G>C
ENST00000445220.7:c.1550G>C	ENSP00000489407.2:p.Arg517Pro
ENST00000664402.2:c.1040G>C	ENSP00000499475.1:p.Arg347Pro
ENST00000673971.2:c.*1496G>C	ENSP00000501192.1:n.*1496G>C
ENST00000445220.6:c.1550G>C	ENSP00000489407.2:p.Arg517Pro
ENST00000262795.6:c.2498G>C	ENSP00000489147.2:p.Arg833Pro
ENST00000664402.1:c.1040G>C	ENSP00000499475.1:p.Arg347Pro
ENST00000673971.1:c.*1496G>C	ENSP00000501192.1:n.*1496G>C
ENST00000262795.5:c.2894G>C	ENSP00000489147.1:p.Arg965Pro
ENST00000414786.6:n.3082G>C
ENST00000445220.5:c.2876G>C	ENSP00000489407.1:p.Arg959Pro