Canonical Allele Identifier: CA515264841

Gene: SHANK3

Linked Data

• dbSNP Id: rs763946730
• MyVariant Identifiers: chr22:g.51160659C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722231C>G , CM000684.2:g.50722231C>G	GRCh38
NC_000022.10:g.51160659C>G , CM000684.1:g.51160659C>G	GRCh37
NC_000022.9:g.49507525C>G	NCBI36
NG_008607.2:g.52877C>G
NG_070230.1:g.58015C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3999C>G	ENSP00000489147.2:p.Leu1333=
ENST00000414786.7:n.4583C>G
ENST00000445220.7:c.3051C>G	ENSP00000489407.2:p.Leu1017=
ENST00000664402.2:c.2541C>G	ENSP00000499475.1:p.Leu847=
ENST00000673971.2:c.*2997C>G	ENSP00000501192.1:n.*2997C>G
ENST00000445220.6:c.3051C>G	ENSP00000489407.2:p.Leu1017=
ENST00000262795.6:c.3999C>G	ENSP00000489147.2:p.Leu1333=
ENST00000664402.1:c.2541C>G	ENSP00000499475.1:p.Leu847=
ENST00000673971.1:c.*2997C>G	ENSP00000501192.1:n.*2997C>G
ENST00000262795.5:c.4395C>G	ENSP00000489147.1:p.Leu1465=
ENST00000414786.6:n.4583C>G
ENST00000445220.5:c.4377C>G	ENSP00000489407.1:p.Leu1459=