Canonical Allele Identifier: CA515263693

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721852-A-G
• MyVariant Identifiers: chr22:g.51160280A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721852A>G , CM000684.2:g.50721852A>G	GRCh38
NC_000022.10:g.51160280A>G , CM000684.1:g.51160280A>G	GRCh37
NC_000022.9:g.49507146A>G	NCBI36
NG_008607.2:g.52498A>G
NG_070230.1:g.57636A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3620A>G	ENSP00000489147.2:p.Lys1207Arg
ENST00000414786.7:n.4204A>G
ENST00000445220.7:c.2672A>G	ENSP00000489407.2:p.Lys891Arg
ENST00000664402.2:c.2162A>G	ENSP00000499475.1:p.Lys721Arg
ENST00000673971.2:c.*2618A>G	ENSP00000501192.1:n.*2618A>G
ENST00000445220.6:c.2672A>G	ENSP00000489407.2:p.Lys891Arg
ENST00000262795.6:c.3620A>G	ENSP00000489147.2:p.Lys1207Arg
ENST00000664402.1:c.2162A>G	ENSP00000499475.1:p.Lys721Arg
ENST00000673971.1:c.*2618A>G	ENSP00000501192.1:n.*2618A>G
ENST00000262795.5:c.4016A>G	ENSP00000489147.1:p.Lys1339Arg
ENST00000414786.6:n.4204A>G
ENST00000445220.5:c.3998A>G	ENSP00000489407.1:p.Lys1333Arg