Canonical Allele Identifier: CA515259773

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083276114
• gnomAD v4: 22-50720612-C-G
• MyVariant Identifiers: chr22:g.51159040C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720612C>G , CM000684.2:g.50720612C>G	GRCh38
NC_000022.10:g.51159040C>G , CM000684.1:g.51159040C>G	GRCh37
NC_000022.9:g.49505906C>G	NCBI36
NG_008607.2:g.51258C>G
NG_070230.1:g.56396C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2380C>G	ENSP00000489147.2:p.Pro794Ala
ENST00000414786.7:n.2964C>G
ENST00000445220.7:c.1432C>G	ENSP00000489407.2:p.Pro478Ala
ENST00000664402.2:c.922C>G	ENSP00000499475.1:p.Pro308Ala
ENST00000673971.2:c.*1378C>G	ENSP00000501192.1:n.*1378C>G
ENST00000445220.6:c.1432C>G	ENSP00000489407.2:p.Pro478Ala
ENST00000262795.6:c.2380C>G	ENSP00000489147.2:p.Pro794Ala
ENST00000664402.1:c.922C>G	ENSP00000499475.1:p.Pro308Ala
ENST00000673971.1:c.*1378C>G	ENSP00000501192.1:n.*1378C>G
ENST00000262795.5:c.2776C>G	ENSP00000489147.1:p.Pro926Ala
ENST00000414786.6:n.2964C>G
ENST00000445220.5:c.2758C>G	ENSP00000489407.1:p.Pro920Ala