Canonical Allele Identifier: CA325578434

Gene: SHANK3

Linked Data

• dbSNP Id: rs530867810
• gnomAD v3: 22-50720912-A-C
• gnomAD v4: 22-50720912-A-C
• MyVariant Identifiers: chr22:g.51159340A>C (hg19) ; chr22:g.50720912A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720912A>C , CM000684.2:g.50720912A>C	GRCh38
NC_000022.10:g.51159340A>C , CM000684.1:g.51159340A>C	GRCh37
NC_000022.9:g.49506206A>C	NCBI36
NG_008607.2:g.51558A>C
NG_070230.1:g.56696A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2680A>C	ENSP00000489147.2:p.Thr894Pro
ENST00000414786.7:n.3264A>C
ENST00000445220.7:c.1732A>C	ENSP00000489407.2:p.Thr578Pro
ENST00000664402.2:c.1222A>C	ENSP00000499475.1:p.Thr408Pro
ENST00000673971.2:c.*1678A>C	ENSP00000501192.1:n.*1678A>C
ENST00000445220.6:c.1732A>C	ENSP00000489407.2:p.Thr578Pro
ENST00000262795.6:c.2680A>C	ENSP00000489147.2:p.Thr894Pro
ENST00000664402.1:c.1222A>C	ENSP00000499475.1:p.Thr408Pro
ENST00000673971.1:c.*1678A>C	ENSP00000501192.1:n.*1678A>C
ENST00000262795.5:c.3076A>C	ENSP00000489147.1:p.Thr1026Pro
ENST00000414786.6:n.3264A>C
ENST00000445220.5:c.3058A>C	ENSP00000489407.1:p.Thr1020Pro