Canonical Allele Identifier: CA515262109

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083286192
• gnomAD v4: 22-50721351-C-G
• MyVariant Identifiers: chr22:g.51159779C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721351C>G , CM000684.2:g.50721351C>G	GRCh38
NC_000022.10:g.51159779C>G , CM000684.1:g.51159779C>G	GRCh37
NC_000022.9:g.49506645C>G	NCBI36
NG_008607.2:g.51997C>G
NG_070230.1:g.57135C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3119C>G	ENSP00000489147.2:p.Ala1040Gly
ENST00000414786.7:n.3703C>G
ENST00000445220.7:c.2171C>G	ENSP00000489407.2:p.Ala724Gly
ENST00000664402.2:c.1661C>G	ENSP00000499475.1:p.Ala554Gly
ENST00000673971.2:c.*2117C>G	ENSP00000501192.1:n.*2117C>G
ENST00000445220.6:c.2171C>G	ENSP00000489407.2:p.Ala724Gly
ENST00000262795.6:c.3119C>G	ENSP00000489147.2:p.Ala1040Gly
ENST00000664402.1:c.1661C>G	ENSP00000499475.1:p.Ala554Gly
ENST00000673971.1:c.*2117C>G	ENSP00000501192.1:n.*2117C>G
ENST00000262795.5:c.3515C>G	ENSP00000489147.1:p.Ala1172Gly
ENST00000414786.6:n.3703C>G
ENST00000445220.5:c.3497C>G	ENSP00000489407.1:p.Ala1166Gly