Canonical Allele Identifier: CA640053515

Gene: SHANK3

Linked Data

• dbSNP Id: rs1166172577
• gnomAD v2: 22-51136438-A-G
• gnomAD v3: 22-50698010-A-G
• gnomAD v4: 22-50698010-A-G
• MyVariant Identifiers: chr22:g.51136438A>G (hg19) ; chr22:g.50698010A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50698010A>G , CM000684.2:g.50698010A>G	GRCh38
NC_000022.10:g.51136438A>G , CM000684.1:g.51136438A>G	GRCh37
NC_000022.9:g.49483304A>G	NCBI36
NG_008607.2:g.28656A>G
NG_070230.1:g.33874A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1099+295A>G	ENSP00000489147.2:n.1099+295A>G
ENST00000414786.7:n.1683+295A>G
ENST00000445220.7:c.151+295A>G	ENSP00000489407.2:n.151+295A>G
ENST00000673971.2:c.1456+295A>G	ENSP00000501192.1:n.1456+295A>G
ENST00000445220.6:c.151+295A>G	ENSP00000489407.2:n.151+295A>G
ENST00000262795.6:c.1099+295A>G	ENSP00000489147.2:n.1099+295A>G
ENST00000673838.1:n.12A>G
ENST00000673971.1:c.1456+295A>G	ENSP00000501192.1:n.1456+295A>G
ENST00000673995.1:c.153-134A>G
ENST00000674010.1:n.12A>G
ENST00000674145.1:n.12A>G
ENST00000262795.5:c.1495+295A>G	ENSP00000489147.1:n.1495+295A>G
ENST00000414786.6:n.1683+295A>G
ENST00000445220.5:c.1477+295A>G	ENSP00000489407.1:n.1477+295A>G