Canonical Allele Identifier: CA515262585

Gene: SHANK3

Linked Data

• dbSNP Id: rs1200085588
• gnomAD v2: 22-51159908-G-C
• gnomAD v4: 22-50721480-G-C
• MyVariant Identifiers: chr22:g.51159908G>C (hg19) ; chr22:g.50721480G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721480G>C , CM000684.2:g.50721480G>C	GRCh38
NC_000022.10:g.51159908G>C , CM000684.1:g.51159908G>C	GRCh37
NC_000022.9:g.49506774G>C	NCBI36
NG_008607.2:g.52126G>C
NG_070230.1:g.57264G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3248G>C	ENSP00000489147.2:p.Ser1083Thr
ENST00000414786.7:n.3832G>C
ENST00000445220.7:c.2300G>C	ENSP00000489407.2:p.Ser767Thr
ENST00000664402.2:c.1790G>C	ENSP00000499475.1:p.Ser597Thr
ENST00000673971.2:c.*2246G>C	ENSP00000501192.1:n.*2246G>C
ENST00000445220.6:c.2300G>C	ENSP00000489407.2:p.Ser767Thr
ENST00000262795.6:c.3248G>C	ENSP00000489147.2:p.Ser1083Thr
ENST00000664402.1:c.1790G>C	ENSP00000499475.1:p.Ser597Thr
ENST00000673971.1:c.*2246G>C	ENSP00000501192.1:n.*2246G>C
ENST00000262795.5:c.3644G>C	ENSP00000489147.1:p.Ser1215Thr
ENST00000414786.6:n.3832G>C
ENST00000445220.5:c.3626G>C	ENSP00000489407.1:p.Ser1209Thr