Canonical Allele Identifier: CA515263458

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 2446164
• ClinVar RCV Id: RCV003156518
• MyVariant Identifiers: chr22:g.51160205A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721777A>C , CM000684.2:g.50721777A>C	GRCh38
NC_000022.10:g.51160205A>C , CM000684.1:g.51160205A>C	GRCh37
NC_000022.9:g.49507071A>C	NCBI36
NG_008607.2:g.52423A>C
NG_070230.1:g.57561A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3545A>C	ENSP00000489147.2:p.Asn1182Thr
ENST00000414786.7:n.4129A>C
ENST00000445220.7:c.2597A>C	ENSP00000489407.2:p.Asn866Thr
ENST00000664402.2:c.2087A>C	ENSP00000499475.1:p.Asn696Thr
ENST00000673971.2:c.*2543A>C	ENSP00000501192.1:n.*2543A>C
ENST00000445220.6:c.2597A>C	ENSP00000489407.2:p.Asn866Thr
ENST00000262795.6:c.3545A>C	ENSP00000489147.2:p.Asn1182Thr
ENST00000664402.1:c.2087A>C	ENSP00000499475.1:p.Asn696Thr
ENST00000673971.1:c.*2543A>C	ENSP00000501192.1:n.*2543A>C
ENST00000262795.5:c.3941A>C	ENSP00000489147.1:p.Asn1314Thr
ENST00000414786.6:n.4129A>C
ENST00000445220.5:c.3923A>C	ENSP00000489407.1:p.Asn1308Thr