Canonical Allele Identifier: CA515264609

Gene: SHANK3

Linked Data

• dbSNP Id: rs1200461927
• gnomAD v2: 22-51160586-T-A
• MyVariant Identifiers: chr22:g.51160586T>A (hg19) ; chr22:g.50722158T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722158T>A , CM000684.2:g.50722158T>A	GRCh38
NC_000022.10:g.51160586T>A , CM000684.1:g.51160586T>A	GRCh37
NC_000022.9:g.49507452T>A	NCBI36
NG_008607.2:g.52804T>A
NG_070230.1:g.57942T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3926T>A	ENSP00000489147.2:p.Leu1309His
ENST00000414786.7:n.4510T>A
ENST00000445220.7:c.2978T>A	ENSP00000489407.2:p.Leu993His
ENST00000664402.2:c.2468T>A	ENSP00000499475.1:p.Leu823His
ENST00000673971.2:c.*2924T>A	ENSP00000501192.1:n.*2924T>A
ENST00000445220.6:c.2978T>A	ENSP00000489407.2:p.Leu993His
ENST00000262795.6:c.3926T>A	ENSP00000489147.2:p.Leu1309His
ENST00000664402.1:c.2468T>A	ENSP00000499475.1:p.Leu823His
ENST00000673971.1:c.*2924T>A	ENSP00000501192.1:n.*2924T>A
ENST00000262795.5:c.4322T>A	ENSP00000489147.1:p.Leu1441His
ENST00000414786.6:n.4510T>A
ENST00000445220.5:c.4304T>A	ENSP00000489407.1:p.Leu1435His