Canonical Allele Identifier: CA10325968

Gene: SHANK3

Linked Data

• dbSNP Id: rs765858091
• ExAC: 22:51159432 C / A
• gnomAD v2: 22-51159432-C-A
• gnomAD v4: 22-50721004-C-A
• MyVariant Identifiers: chr22:g.51159432C>A (hg19) ; chr22:g.50721004C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721004C>A , CM000684.2:g.50721004C>A	GRCh38
NC_000022.10:g.51159432C>A , CM000684.1:g.51159432C>A	GRCh37
NC_000022.9:g.49506298C>A	NCBI36
NG_008607.2:g.51650C>A
NG_070230.1:g.56788C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2772C>A	ENSP00000489147.2:p.Leu924=
ENST00000414786.7:n.3356C>A
ENST00000445220.7:c.1824C>A	ENSP00000489407.2:p.Leu608=
ENST00000664402.2:c.1314C>A	ENSP00000499475.1:p.Leu438=
ENST00000673971.2:c.*1770C>A	ENSP00000501192.1:n.*1770C>A
ENST00000445220.6:c.1824C>A	ENSP00000489407.2:p.Leu608=
ENST00000262795.6:c.2772C>A	ENSP00000489147.2:p.Leu924=
ENST00000664402.1:c.1314C>A	ENSP00000499475.1:p.Leu438=
ENST00000673971.1:c.*1770C>A	ENSP00000501192.1:n.*1770C>A
ENST00000262795.5:c.3168C>A	ENSP00000489147.1:p.Leu1056=
ENST00000414786.6:n.3356C>A
ENST00000445220.5:c.3150C>A	ENSP00000489407.1:p.Leu1050=