Canonical Allele Identifier: CA325578237

Gene: SHANK3

Linked Data

• dbSNP Id: rs867261586
• gnomAD v4: 22-50720675-C-A
• MyVariant Identifiers: chr22:g.51159103C>A (hg19) ; chr22:g.50720675C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720675C>A , CM000684.2:g.50720675C>A	GRCh38
NC_000022.10:g.51159103C>A , CM000684.1:g.51159103C>A	GRCh37
NC_000022.9:g.49505969C>A	NCBI36
NG_008607.2:g.51321C>A
NG_070230.1:g.56459C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2443C>A	ENSP00000489147.2:p.Gln815Lys
ENST00000414786.7:n.3027C>A
ENST00000445220.7:c.1495C>A	ENSP00000489407.2:p.Gln499Lys
ENST00000664402.2:c.985C>A	ENSP00000499475.1:p.Gln329Lys
ENST00000673971.2:c.*1441C>A	ENSP00000501192.1:n.*1441C>A
ENST00000445220.6:c.1495C>A	ENSP00000489407.2:p.Gln499Lys
ENST00000262795.6:c.2443C>A	ENSP00000489147.2:p.Gln815Lys
ENST00000664402.1:c.985C>A	ENSP00000499475.1:p.Gln329Lys
ENST00000673971.1:c.*1441C>A	ENSP00000501192.1:n.*1441C>A
ENST00000262795.5:c.2839C>A	ENSP00000489147.1:p.Gln947Lys
ENST00000414786.6:n.3027C>A
ENST00000445220.5:c.2821C>A	ENSP00000489407.1:p.Gln941Lys