Canonical Allele Identifier: CA515261100

Gene: SHANK3

Linked Data

• dbSNP Id: rs1445624252
• gnomAD v2: 22-51159507-C-T
• gnomAD v4: 22-50721079-C-T
• MyVariant Identifiers: chr22:g.51159507C>T (hg19) ; chr22:g.50721079C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721079C>T , CM000684.2:g.50721079C>T	GRCh38
NC_000022.10:g.51159507C>T , CM000684.1:g.51159507C>T	GRCh37
NC_000022.9:g.49506373C>T	NCBI36
NG_008607.2:g.51725C>T
NG_070230.1:g.56863C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2847C>T	ENSP00000489147.2:p.Ser949=
ENST00000414786.7:n.3431C>T
ENST00000445220.7:c.1899C>T	ENSP00000489407.2:p.Ser633=
ENST00000664402.2:c.1389C>T	ENSP00000499475.1:p.Ser463=
ENST00000673971.2:c.*1845C>T	ENSP00000501192.1:n.*1845C>T
ENST00000445220.6:c.1899C>T	ENSP00000489407.2:p.Ser633=
ENST00000262795.6:c.2847C>T	ENSP00000489147.2:p.Ser949=
ENST00000664402.1:c.1389C>T	ENSP00000499475.1:p.Ser463=
ENST00000673971.1:c.*1845C>T	ENSP00000501192.1:n.*1845C>T
ENST00000262795.5:c.3243C>T	ENSP00000489147.1:p.Ser1081=
ENST00000414786.6:n.3431C>T
ENST00000445220.5:c.3225C>T	ENSP00000489407.1:p.Ser1075=