Canonical Allele Identifier: CA515262547

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159899A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721471A>C , CM000684.2:g.50721471A>C	GRCh38
NC_000022.10:g.51159899A>C , CM000684.1:g.51159899A>C	GRCh37
NC_000022.9:g.49506765A>C	NCBI36
NG_008607.2:g.52117A>C
NG_070230.1:g.57255A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3239A>C	ENSP00000489147.2:p.His1080Pro
ENST00000414786.7:n.3823A>C
ENST00000445220.7:c.2291A>C	ENSP00000489407.2:p.His764Pro
ENST00000664402.2:c.1781A>C	ENSP00000499475.1:p.His594Pro
ENST00000673971.2:c.*2237A>C	ENSP00000501192.1:n.*2237A>C
ENST00000445220.6:c.2291A>C	ENSP00000489407.2:p.His764Pro
ENST00000262795.6:c.3239A>C	ENSP00000489147.2:p.His1080Pro
ENST00000664402.1:c.1781A>C	ENSP00000499475.1:p.His594Pro
ENST00000673971.1:c.*2237A>C	ENSP00000501192.1:n.*2237A>C
ENST00000262795.5:c.3635A>C	ENSP00000489147.1:p.His1212Pro
ENST00000414786.6:n.3823A>C
ENST00000445220.5:c.3617A>C	ENSP00000489407.1:p.His1206Pro