Canonical Allele Identifier: CA515262295

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159835A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721407A>G , CM000684.2:g.50721407A>G	GRCh38
NC_000022.10:g.51159835A>G , CM000684.1:g.51159835A>G	GRCh37
NC_000022.9:g.49506701A>G	NCBI36
NG_008607.2:g.52053A>G
NG_070230.1:g.57191A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3175A>G	ENSP00000489147.2:p.Lys1059Glu
ENST00000414786.7:n.3759A>G
ENST00000445220.7:c.2227A>G	ENSP00000489407.2:p.Lys743Glu
ENST00000664402.2:c.1717A>G	ENSP00000499475.1:p.Lys573Glu
ENST00000673971.2:c.*2173A>G	ENSP00000501192.1:n.*2173A>G
ENST00000445220.6:c.2227A>G	ENSP00000489407.2:p.Lys743Glu
ENST00000262795.6:c.3175A>G	ENSP00000489147.2:p.Lys1059Glu
ENST00000664402.1:c.1717A>G	ENSP00000499475.1:p.Lys573Glu
ENST00000673971.1:c.*2173A>G	ENSP00000501192.1:n.*2173A>G
ENST00000262795.5:c.3571A>G	ENSP00000489147.1:p.Lys1191Glu
ENST00000414786.6:n.3759A>G
ENST00000445220.5:c.3553A>G	ENSP00000489407.1:p.Lys1185Glu