Canonical Allele Identifier: CA10326243

Gene: SHANK3

Linked Data

• dbSNP Id: rs753424909
• ExAC: 22:51160574 C / T
• gnomAD v2: 22-51160574-C-T
• gnomAD v4: 22-50722146-C-T
• MyVariant Identifiers: chr22:g.51160574C>T (hg19) ; chr22:g.50722146C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722146C>T , CM000684.2:g.50722146C>T	GRCh38
NC_000022.10:g.51160574C>T , CM000684.1:g.51160574C>T	GRCh37
NC_000022.9:g.49507440C>T	NCBI36
NG_008607.2:g.52792C>T
NG_070230.1:g.57930C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3914C>T	ENSP00000489147.2:p.Ser1305Leu
ENST00000414786.7:n.4498C>T
ENST00000445220.7:c.2966C>T	ENSP00000489407.2:p.Ser989Leu
ENST00000664402.2:c.2456C>T	ENSP00000499475.1:p.Ser819Leu
ENST00000673971.2:c.*2912C>T	ENSP00000501192.1:n.*2912C>T
ENST00000445220.6:c.2966C>T	ENSP00000489407.2:p.Ser989Leu
ENST00000262795.6:c.3914C>T	ENSP00000489147.2:p.Ser1305Leu
ENST00000664402.1:c.2456C>T	ENSP00000499475.1:p.Ser819Leu
ENST00000673971.1:c.*2912C>T	ENSP00000501192.1:n.*2912C>T
ENST00000262795.5:c.4310C>T	ENSP00000489147.1:p.Ser1437Leu
ENST00000414786.6:n.4498C>T
ENST00000445220.5:c.4292C>T	ENSP00000489407.1:p.Ser1431Leu