Canonical Allele Identifier: CA515264548

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160566G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722138G>C , CM000684.2:g.50722138G>C	GRCh38
NC_000022.10:g.51160566G>C , CM000684.1:g.51160566G>C	GRCh37
NC_000022.9:g.49507432G>C	NCBI36
NG_008607.2:g.52784G>C
NG_070230.1:g.57922G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3906G>C	ENSP00000489147.2:p.Lys1302Asn
ENST00000414786.7:n.4490G>C
ENST00000445220.7:c.2958G>C	ENSP00000489407.2:p.Lys986Asn
ENST00000664402.2:c.2448G>C	ENSP00000499475.1:p.Lys816Asn
ENST00000673971.2:c.*2904G>C	ENSP00000501192.1:n.*2904G>C
ENST00000445220.6:c.2958G>C	ENSP00000489407.2:p.Lys986Asn
ENST00000262795.6:c.3906G>C	ENSP00000489147.2:p.Lys1302Asn
ENST00000664402.1:c.2448G>C	ENSP00000499475.1:p.Lys816Asn
ENST00000673971.1:c.*2904G>C	ENSP00000501192.1:n.*2904G>C
ENST00000262795.5:c.4302G>C	ENSP00000489147.1:p.Lys1434Asn
ENST00000414786.6:n.4490G>C
ENST00000445220.5:c.4284G>C	ENSP00000489407.1:p.Lys1428Asn