Canonical Allele Identifier: CA515266924

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50730944-A-G
• MyVariant Identifiers: chr22:g.51169372A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50730944A>G , CM000684.2:g.50730944A>G	GRCh38
NC_000022.10:g.51169372A>G , CM000684.1:g.51169372A>G	GRCh37
NC_000022.9:g.49516238A>G	NCBI36
NG_008607.2:g.61590A>G
NG_070230.1:g.66728A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4456A>G	ENSP00000489147.2:p.Lys1486Glu
ENST00000414786.7:n.5040A>G
ENST00000445220.7:c.3508A>G	ENSP00000489407.2:p.Lys1170Glu
ENST00000664402.2:c.2998A>G	ENSP00000499475.1:p.Lys1000Glu
ENST00000673971.2:c.*3454A>G	ENSP00000501192.1:n.*3454A>G
ENST00000445220.6:c.3508A>G	ENSP00000489407.2:p.Lys1170Glu
ENST00000262795.6:c.4456A>G	ENSP00000489147.2:p.Lys1486Glu
ENST00000659388.1:c.271A>G	ENSP00000499632.1:p.Lys91Glu
ENST00000664402.1:c.2998A>G	ENSP00000499475.1:p.Lys1000Glu
ENST00000673971.1:c.*3454A>G	ENSP00000501192.1:n.*3454A>G
ENST00000262795.5:c.4825A>G	ENSP00000489147.1:p.Lys1609Glu
ENST00000414786.6:n.5040A>G
ENST00000445220.5:c.4807A>G	ENSP00000489407.1:p.Lys1603Glu