Canonical Allele Identifier: CA515261874

Gene: SHANK3

Linked Data

• dbSNP Id: rs1414665122
• gnomAD v2: 22-51159766-A-G
• MyVariant Identifiers: chr22:g.51159766A>G (hg19) ; chr22:g.50721338A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721338A>G , CM000684.2:g.50721338A>G	GRCh38
NC_000022.10:g.51159766A>G , CM000684.1:g.51159766A>G	GRCh37
NC_000022.9:g.49506632A>G	NCBI36
NG_008607.2:g.51984A>G
NG_070230.1:g.57122A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3106A>G	ENSP00000489147.2:p.Ile1036Val
ENST00000414786.7:n.3690A>G
ENST00000445220.7:c.2158A>G	ENSP00000489407.2:p.Ile720Val
ENST00000664402.2:c.1648A>G	ENSP00000499475.1:p.Ile550Val
ENST00000673971.2:c.*2104A>G	ENSP00000501192.1:n.*2104A>G
ENST00000445220.6:c.2158A>G	ENSP00000489407.2:p.Ile720Val
ENST00000262795.6:c.3106A>G	ENSP00000489147.2:p.Ile1036Val
ENST00000664402.1:c.1648A>G	ENSP00000499475.1:p.Ile550Val
ENST00000673971.1:c.*2104A>G	ENSP00000501192.1:n.*2104A>G
ENST00000262795.5:c.3502A>G	ENSP00000489147.1:p.Ile1168Val
ENST00000414786.6:n.3690A>G
ENST00000445220.5:c.3484A>G	ENSP00000489407.1:p.Ile1162Val