Canonical Allele Identifier: CA515260916

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083281414
• MyVariant Identifiers: chr22:g.51159439A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721011A>C , CM000684.2:g.50721011A>C	GRCh38
NC_000022.10:g.51159439A>C , CM000684.1:g.51159439A>C	GRCh37
NC_000022.9:g.49506305A>C	NCBI36
NG_008607.2:g.51657A>C
NG_070230.1:g.56795A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2779A>C	ENSP00000489147.2:p.Thr927Pro
ENST00000414786.7:n.3363A>C
ENST00000445220.7:c.1831A>C	ENSP00000489407.2:p.Thr611Pro
ENST00000664402.2:c.1321A>C	ENSP00000499475.1:p.Thr441Pro
ENST00000673971.2:c.*1777A>C	ENSP00000501192.1:n.*1777A>C
ENST00000445220.6:c.1831A>C	ENSP00000489407.2:p.Thr611Pro
ENST00000262795.6:c.2779A>C	ENSP00000489147.2:p.Thr927Pro
ENST00000664402.1:c.1321A>C	ENSP00000499475.1:p.Thr441Pro
ENST00000673971.1:c.*1777A>C	ENSP00000501192.1:n.*1777A>C
ENST00000262795.5:c.3175A>C	ENSP00000489147.1:p.Thr1059Pro
ENST00000414786.6:n.3363A>C
ENST00000445220.5:c.3157A>C	ENSP00000489407.1:p.Thr1053Pro