Canonical Allele Identifier: CA515262209

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159809A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721381A>C , CM000684.2:g.50721381A>C	GRCh38
NC_000022.10:g.51159809A>C , CM000684.1:g.51159809A>C	GRCh37
NC_000022.9:g.49506675A>C	NCBI36
NG_008607.2:g.52027A>C
NG_070230.1:g.57165A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3149A>C	ENSP00000489147.2:p.Glu1050Ala
ENST00000414786.7:n.3733A>C
ENST00000445220.7:c.2201A>C	ENSP00000489407.2:p.Glu734Ala
ENST00000664402.2:c.1691A>C	ENSP00000499475.1:p.Glu564Ala
ENST00000673971.2:c.*2147A>C	ENSP00000501192.1:n.*2147A>C
ENST00000445220.6:c.2201A>C	ENSP00000489407.2:p.Glu734Ala
ENST00000262795.6:c.3149A>C	ENSP00000489147.2:p.Glu1050Ala
ENST00000664402.1:c.1691A>C	ENSP00000499475.1:p.Glu564Ala
ENST00000673971.1:c.*2147A>C	ENSP00000501192.1:n.*2147A>C
ENST00000262795.5:c.3545A>C	ENSP00000489147.1:p.Glu1182Ala
ENST00000414786.6:n.3733A>C
ENST00000445220.5:c.3527A>C	ENSP00000489407.1:p.Glu1176Ala