Canonical Allele Identifier: CA10325810

Gene: SHANK3

Linked Data

• dbSNP Id: rs779705549
• ExAC: 22:51153260 A / T
• gnomAD v2: 22-51153260-A-T
• gnomAD v3: 22-50714832-A-T
• gnomAD v4: 22-50714832-A-T
• MyVariant Identifiers: chr22:g.51153260A>T (hg19) ; chr22:g.50714832A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50714832A>T , CM000684.2:g.50714832A>T	GRCh38
NC_000022.10:g.51153260A>T , CM000684.1:g.51153260A>T	GRCh37
NC_000022.9:g.49500126A>T	NCBI36
NG_008607.2:g.45478A>T
NG_070230.1:g.50698A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.1736-85A>T	ENSP00000489147.2:n.1736-85A>T
ENST00000414786.7:n.2320-85A>T
ENST00000445220.7:c.788-85A>T	ENSP00000489407.2:n.788-85A>T
ENST00000664402.2:c.278-85A>T	ENSP00000499475.1:n.278-85A>T
ENST00000673971.2:c.*734-85A>T	ENSP00000501192.1:n.*734-85A>T
ENST00000445220.6:c.788-85A>T	ENSP00000489407.2:n.788-85A>T
ENST00000262795.6:c.1736-85A>T	ENSP00000489147.2:n.1736-85A>T
ENST00000664402.1:c.278-85A>T	ENSP00000499475.1:n.278-85A>T
ENST00000673971.1:c.*734-85A>T	ENSP00000501192.1:n.*734-85A>T
ENST00000262795.5:c.2132-85A>T	ENSP00000489147.1:n.2132-85A>T
ENST00000414786.6:n.2320-85A>T
ENST00000445220.5:c.2114-85A>T	ENSP00000489407.1:n.2114-85A>T