Canonical Allele Identifier: CA515259765

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720609-G-C
• MyVariant Identifiers: chr22:g.51159037G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720609G>C , CM000684.2:g.50720609G>C	GRCh38
NC_000022.10:g.51159037G>C , CM000684.1:g.51159037G>C	GRCh37
NC_000022.9:g.49505903G>C	NCBI36
NG_008607.2:g.51255G>C
NG_070230.1:g.56393G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2377G>C	ENSP00000489147.2:p.Gly793Arg
ENST00000414786.7:n.2961G>C
ENST00000445220.7:c.1429G>C	ENSP00000489407.2:p.Gly477Arg
ENST00000664402.2:c.919G>C	ENSP00000499475.1:p.Gly307Arg
ENST00000673971.2:c.*1375G>C	ENSP00000501192.1:n.*1375G>C
ENST00000445220.6:c.1429G>C	ENSP00000489407.2:p.Gly477Arg
ENST00000262795.6:c.2377G>C	ENSP00000489147.2:p.Gly793Arg
ENST00000664402.1:c.919G>C	ENSP00000499475.1:p.Gly307Arg
ENST00000673971.1:c.*1375G>C	ENSP00000501192.1:n.*1375G>C
ENST00000262795.5:c.2773G>C	ENSP00000489147.1:p.Gly925Arg
ENST00000414786.6:n.2961G>C
ENST00000445220.5:c.2755G>C	ENSP00000489407.1:p.Gly919Arg