Canonical Allele Identifier: CA325578239

Gene: SHANK3

Linked Data

• dbSNP Id: rs867531841
• gnomAD v4: 22-50720690-C-A
• MyVariant Identifiers: chr22:g.51159118C>A (hg19) ; chr22:g.50720690C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720690C>A , CM000684.2:g.50720690C>A	GRCh38
NC_000022.10:g.51159118C>A , CM000684.1:g.51159118C>A	GRCh37
NC_000022.9:g.49505984C>A	NCBI36
NG_008607.2:g.51336C>A
NG_070230.1:g.56474C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2458C>A	ENSP00000489147.2:p.Pro820Thr
ENST00000414786.7:n.3042C>A
ENST00000445220.7:c.1510C>A	ENSP00000489407.2:p.Pro504Thr
ENST00000664402.2:c.1000C>A	ENSP00000499475.1:p.Pro334Thr
ENST00000673971.2:c.*1456C>A	ENSP00000501192.1:n.*1456C>A
ENST00000445220.6:c.1510C>A	ENSP00000489407.2:p.Pro504Thr
ENST00000262795.6:c.2458C>A	ENSP00000489147.2:p.Pro820Thr
ENST00000664402.1:c.1000C>A	ENSP00000499475.1:p.Pro334Thr
ENST00000673971.1:c.*1456C>A	ENSP00000501192.1:n.*1456C>A
ENST00000262795.5:c.2854C>A	ENSP00000489147.1:p.Pro952Thr
ENST00000414786.6:n.3042C>A
ENST00000445220.5:c.2836C>A	ENSP00000489407.1:p.Pro946Thr