Canonical Allele Identifier: CA515262938

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721585-T-G
• MyVariant Identifiers: chr22:g.51160013T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721585T>G , CM000684.2:g.50721585T>G	GRCh38
NC_000022.10:g.51160013T>G , CM000684.1:g.51160013T>G	GRCh37
NC_000022.9:g.49506879T>G	NCBI36
NG_008607.2:g.52231T>G
NG_070230.1:g.57369T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3353T>G	ENSP00000489147.2:p.Leu1118Arg
ENST00000414786.7:n.3937T>G
ENST00000445220.7:c.2405T>G	ENSP00000489407.2:p.Leu802Arg
ENST00000664402.2:c.1895T>G	ENSP00000499475.1:p.Leu632Arg
ENST00000673971.2:c.*2351T>G	ENSP00000501192.1:n.*2351T>G
ENST00000445220.6:c.2405T>G	ENSP00000489407.2:p.Leu802Arg
ENST00000262795.6:c.3353T>G	ENSP00000489147.2:p.Leu1118Arg
ENST00000664402.1:c.1895T>G	ENSP00000499475.1:p.Leu632Arg
ENST00000673971.1:c.*2351T>G	ENSP00000501192.1:n.*2351T>G
ENST00000262795.5:c.3749T>G	ENSP00000489147.1:p.Leu1250Arg
ENST00000414786.6:n.3937T>G
ENST00000445220.5:c.3731T>G	ENSP00000489407.1:p.Leu1244Arg