Canonical Allele Identifier: CA515259784

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 2229626
• ClinVar RCV Id: RCV002697589
• MyVariant Identifiers: chr22:g.51159044A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720616A>C , CM000684.2:g.50720616A>C	GRCh38
NC_000022.10:g.51159044A>C , CM000684.1:g.51159044A>C	GRCh37
NC_000022.9:g.49505910A>C	NCBI36
NG_008607.2:g.51262A>C
NG_070230.1:g.56400A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2384A>C	ENSP00000489147.2:p.Asp795Ala
ENST00000414786.7:n.2968A>C
ENST00000445220.7:c.1436A>C	ENSP00000489407.2:p.Asp479Ala
ENST00000664402.2:c.926A>C	ENSP00000499475.1:p.Asp309Ala
ENST00000673971.2:c.*1382A>C	ENSP00000501192.1:n.*1382A>C
ENST00000445220.6:c.1436A>C	ENSP00000489407.2:p.Asp479Ala
ENST00000262795.6:c.2384A>C	ENSP00000489147.2:p.Asp795Ala
ENST00000664402.1:c.926A>C	ENSP00000499475.1:p.Asp309Ala
ENST00000673971.1:c.*1382A>C	ENSP00000501192.1:n.*1382A>C
ENST00000262795.5:c.2780A>C	ENSP00000489147.1:p.Asp927Ala
ENST00000414786.6:n.2968A>C
ENST00000445220.5:c.2762A>C	ENSP00000489407.1:p.Asp921Ala