Canonical Allele Identifier: CA10326113

Gene: SHANK3

Linked Data

• dbSNP Id: rs751183635
• ExAC: 22:51159961 A / G
• gnomAD v2: 22-51159961-A-G
• MyVariant Identifiers: chr22:g.51159961A>G (hg19) ; chr22:g.50721533A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721533A>G , CM000684.2:g.50721533A>G	GRCh38
NC_000022.10:g.51159961A>G , CM000684.1:g.51159961A>G	GRCh37
NC_000022.9:g.49506827A>G	NCBI36
NG_008607.2:g.52179A>G
NG_070230.1:g.57317A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3301A>G	ENSP00000489147.2:p.Thr1101Ala
ENST00000414786.7:n.3885A>G
ENST00000445220.7:c.2353A>G	ENSP00000489407.2:p.Thr785Ala
ENST00000664402.2:c.1843A>G	ENSP00000499475.1:p.Thr615Ala
ENST00000673971.2:c.*2299A>G	ENSP00000501192.1:n.*2299A>G
ENST00000445220.6:c.2353A>G	ENSP00000489407.2:p.Thr785Ala
ENST00000262795.6:c.3301A>G	ENSP00000489147.2:p.Thr1101Ala
ENST00000664402.1:c.1843A>G	ENSP00000499475.1:p.Thr615Ala
ENST00000673971.1:c.*2299A>G	ENSP00000501192.1:n.*2299A>G
ENST00000262795.5:c.3697A>G	ENSP00000489147.1:p.Thr1233Ala
ENST00000414786.6:n.3885A>G
ENST00000445220.5:c.3679A>G	ENSP00000489407.1:p.Thr1227Ala