Canonical Allele Identifier: CA515264964

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160697A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722269A>C , CM000684.2:g.50722269A>C	GRCh38
NC_000022.10:g.51160697A>C , CM000684.1:g.51160697A>C	GRCh37
NC_000022.9:g.49507563A>C	NCBI36
NG_008607.2:g.52915A>C
NG_070230.1:g.58053A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4037A>C	ENSP00000489147.2:p.Glu1346Ala
ENST00000414786.7:n.4621A>C
ENST00000445220.7:c.3089A>C	ENSP00000489407.2:p.Glu1030Ala
ENST00000664402.2:c.2579A>C	ENSP00000499475.1:p.Glu860Ala
ENST00000673971.2:c.*3035A>C	ENSP00000501192.1:n.*3035A>C
ENST00000445220.6:c.3089A>C	ENSP00000489407.2:p.Glu1030Ala
ENST00000262795.6:c.4037A>C	ENSP00000489147.2:p.Glu1346Ala
ENST00000664402.1:c.2579A>C	ENSP00000499475.1:p.Glu860Ala
ENST00000673971.1:c.*3035A>C	ENSP00000501192.1:n.*3035A>C
ENST00000262795.5:c.4433A>C	ENSP00000489147.1:p.Glu1478Ala
ENST00000414786.6:n.4621A>C
ENST00000445220.5:c.4415A>C	ENSP00000489407.1:p.Glu1472Ala