Canonical Allele Identifier: CA515262220

Gene: SHANK3

Linked Data

• dbSNP Id: rs1484790978
• gnomAD v2: 22-51159812-A-G
• gnomAD v4: 22-50721384-A-G
• MyVariant Identifiers: chr22:g.51159812A>G (hg19) ; chr22:g.50721384A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721384A>G , CM000684.2:g.50721384A>G	GRCh38
NC_000022.10:g.51159812A>G , CM000684.1:g.51159812A>G	GRCh37
NC_000022.9:g.49506678A>G	NCBI36
NG_008607.2:g.52030A>G
NG_070230.1:g.57168A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3152A>G	ENSP00000489147.2:p.Glu1051Gly
ENST00000414786.7:n.3736A>G
ENST00000445220.7:c.2204A>G	ENSP00000489407.2:p.Glu735Gly
ENST00000664402.2:c.1694A>G	ENSP00000499475.1:p.Glu565Gly
ENST00000673971.2:c.*2150A>G	ENSP00000501192.1:n.*2150A>G
ENST00000445220.6:c.2204A>G	ENSP00000489407.2:p.Glu735Gly
ENST00000262795.6:c.3152A>G	ENSP00000489147.2:p.Glu1051Gly
ENST00000664402.1:c.1694A>G	ENSP00000499475.1:p.Glu565Gly
ENST00000673971.1:c.*2150A>G	ENSP00000501192.1:n.*2150A>G
ENST00000262795.5:c.3548A>G	ENSP00000489147.1:p.Glu1183Gly
ENST00000414786.6:n.3736A>G
ENST00000445220.5:c.3530A>G	ENSP00000489407.1:p.Glu1177Gly