Canonical Allele Identifier: CA515259795

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720620-C-G
• MyVariant Identifiers: chr22:g.51159048C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720620C>G , CM000684.2:g.50720620C>G	GRCh38
NC_000022.10:g.51159048C>G , CM000684.1:g.51159048C>G	GRCh37
NC_000022.9:g.49505914C>G	NCBI36
NG_008607.2:g.51266C>G
NG_070230.1:g.56404C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2388C>G	ENSP00000489147.2:p.Ser796Arg
ENST00000414786.7:n.2972C>G
ENST00000445220.7:c.1440C>G	ENSP00000489407.2:p.Ser480Arg
ENST00000664402.2:c.930C>G	ENSP00000499475.1:p.Ser310Arg
ENST00000673971.2:c.*1386C>G	ENSP00000501192.1:n.*1386C>G
ENST00000445220.6:c.1440C>G	ENSP00000489407.2:p.Ser480Arg
ENST00000262795.6:c.2388C>G	ENSP00000489147.2:p.Ser796Arg
ENST00000664402.1:c.930C>G	ENSP00000499475.1:p.Ser310Arg
ENST00000673971.1:c.*1386C>G	ENSP00000501192.1:n.*1386C>G
ENST00000262795.5:c.2784C>G	ENSP00000489147.1:p.Ser928Arg
ENST00000414786.6:n.2972C>G
ENST00000445220.5:c.2766C>G	ENSP00000489407.1:p.Ser922Arg