Canonical Allele Identifier: CA515260182

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720750-A-G
• MyVariant Identifiers: chr22:g.51159178A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720750A>G , CM000684.2:g.50720750A>G	GRCh38
NC_000022.10:g.51159178A>G , CM000684.1:g.51159178A>G	GRCh37
NC_000022.9:g.49506044A>G	NCBI36
NG_008607.2:g.51396A>G
NG_070230.1:g.56534A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2518A>G	ENSP00000489147.2:p.Ser840Gly
ENST00000414786.7:n.3102A>G
ENST00000445220.7:c.1570A>G	ENSP00000489407.2:p.Ser524Gly
ENST00000664402.2:c.1060A>G	ENSP00000499475.1:p.Ser354Gly
ENST00000673971.2:c.*1516A>G	ENSP00000501192.1:n.*1516A>G
ENST00000445220.6:c.1570A>G	ENSP00000489407.2:p.Ser524Gly
ENST00000262795.6:c.2518A>G	ENSP00000489147.2:p.Ser840Gly
ENST00000664402.1:c.1060A>G	ENSP00000499475.1:p.Ser354Gly
ENST00000673971.1:c.*1516A>G	ENSP00000501192.1:n.*1516A>G
ENST00000262795.5:c.2914A>G	ENSP00000489147.1:p.Ser972Gly
ENST00000414786.6:n.3102A>G
ENST00000445220.5:c.2896A>G	ENSP00000489407.1:p.Ser966Gly