Canonical Allele Identifier: CA515260896

Gene: SHANK3

Linked Data

• dbSNP Id: rs929306350
• MyVariant Identifiers: chr22:g.51159430C>G (hg19) ; chr22:g.50721002C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721002C>G , CM000684.2:g.50721002C>G	GRCh38
NC_000022.10:g.51159430C>G , CM000684.1:g.51159430C>G	GRCh37
NC_000022.9:g.49506296C>G	NCBI36
NG_008607.2:g.51648C>G
NG_070230.1:g.56786C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2770C>G	ENSP00000489147.2:p.Leu924Val
ENST00000414786.7:n.3354C>G
ENST00000445220.7:c.1822C>G	ENSP00000489407.2:p.Leu608Val
ENST00000664402.2:c.1312C>G	ENSP00000499475.1:p.Leu438Val
ENST00000673971.2:c.*1768C>G	ENSP00000501192.1:n.*1768C>G
ENST00000445220.6:c.1822C>G	ENSP00000489407.2:p.Leu608Val
ENST00000262795.6:c.2770C>G	ENSP00000489147.2:p.Leu924Val
ENST00000664402.1:c.1312C>G	ENSP00000499475.1:p.Leu438Val
ENST00000673971.1:c.*1768C>G	ENSP00000501192.1:n.*1768C>G
ENST00000262795.5:c.3166C>G	ENSP00000489147.1:p.Leu1056Val
ENST00000414786.6:n.3354C>G
ENST00000445220.5:c.3148C>G	ENSP00000489407.1:p.Leu1050Val