Canonical Allele Identifier: CA515260364

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720812-C-T
• MyVariant Identifiers: chr22:g.51159240C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720812C>T , CM000684.2:g.50720812C>T	GRCh38
NC_000022.10:g.51159240C>T , CM000684.1:g.51159240C>T	GRCh37
NC_000022.9:g.49506106C>T	NCBI36
NG_008607.2:g.51458C>T
NG_070230.1:g.56596C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2580C>T	ENSP00000489147.2:p.Arg860=
ENST00000414786.7:n.3164C>T
ENST00000445220.7:c.1632C>T	ENSP00000489407.2:p.Arg544=
ENST00000664402.2:c.1122C>T	ENSP00000499475.1:p.Arg374=
ENST00000673971.2:c.*1578C>T	ENSP00000501192.1:n.*1578C>T
ENST00000445220.6:c.1632C>T	ENSP00000489407.2:p.Arg544=
ENST00000262795.6:c.2580C>T	ENSP00000489147.2:p.Arg860=
ENST00000664402.1:c.1122C>T	ENSP00000499475.1:p.Arg374=
ENST00000673971.1:c.*1578C>T	ENSP00000501192.1:n.*1578C>T
ENST00000262795.5:c.2976C>T	ENSP00000489147.1:p.Arg992=
ENST00000414786.6:n.3164C>T
ENST00000445220.5:c.2958C>T	ENSP00000489407.1:p.Arg986=