Canonical Allele Identifier: CA10325969

Gene: SHANK3

Linked Data

• dbSNP Id: rs765858091
• ExAC: 22:51159432 C / T
• gnomAD v2: 22-51159432-C-T
• gnomAD v3: 22-50721004-C-T
• gnomAD v4: 22-50721004-C-T
• MyVariant Identifiers: chr22:g.51159432C>T (hg19) ; chr22:g.50721004C>T (hg38)

Genomic Alleles

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

Transcript Alleles

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