Canonical Allele Identifier: CA515266951

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50730951-C-T
• MyVariant Identifiers: chr22:g.51169379C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50730951C>T , CM000684.2:g.50730951C>T	GRCh38
NC_000022.10:g.51169379C>T , CM000684.1:g.51169379C>T	GRCh37
NC_000022.9:g.49516245C>T	NCBI36
NG_008607.2:g.61597C>T
NG_070230.1:g.66735C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4463C>T	ENSP00000489147.2:p.Ser1488Phe
ENST00000414786.7:n.5047C>T
ENST00000445220.7:c.3515C>T	ENSP00000489407.2:p.Ser1172Phe
ENST00000664402.2:c.3005C>T	ENSP00000499475.1:p.Ser1002Phe
ENST00000673971.2:c.*3461C>T	ENSP00000501192.1:n.*3461C>T
ENST00000445220.6:c.3515C>T	ENSP00000489407.2:p.Ser1172Phe
ENST00000262795.6:c.4463C>T	ENSP00000489147.2:p.Ser1488Phe
ENST00000659388.1:c.278C>T	ENSP00000499632.1:p.Ser93Phe
ENST00000664402.1:c.3005C>T	ENSP00000499475.1:p.Ser1002Phe
ENST00000673971.1:c.*3461C>T	ENSP00000501192.1:n.*3461C>T
ENST00000262795.5:c.4832C>T	ENSP00000489147.1:p.Ser1611Phe
ENST00000414786.6:n.5047C>T
ENST00000445220.5:c.4814C>T	ENSP00000489407.1:p.Ser1605Phe