Canonical Allele Identifier: CA515261106

Gene: SHANK3

Linked Data

• dbSNP Id: rs1195845760
• gnomAD v2: 22-51159510-C-T
• gnomAD v4: 22-50721082-C-T
• MyVariant Identifiers: chr22:g.51159510C>T (hg19) ; chr22:g.50721082C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721082C>T , CM000684.2:g.50721082C>T	GRCh38
NC_000022.10:g.51159510C>T , CM000684.1:g.51159510C>T	GRCh37
NC_000022.9:g.49506376C>T	NCBI36
NG_008607.2:g.51728C>T
NG_070230.1:g.56866C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2850C>T	ENSP00000489147.2:p.Gly950=
ENST00000414786.7:n.3434C>T
ENST00000445220.7:c.1902C>T	ENSP00000489407.2:p.Gly634=
ENST00000664402.2:c.1392C>T	ENSP00000499475.1:p.Gly464=
ENST00000673971.2:c.*1848C>T	ENSP00000501192.1:n.*1848C>T
ENST00000445220.6:c.1902C>T	ENSP00000489407.2:p.Gly634=
ENST00000262795.6:c.2850C>T	ENSP00000489147.2:p.Gly950=
ENST00000664402.1:c.1392C>T	ENSP00000499475.1:p.Gly464=
ENST00000673971.1:c.*1848C>T	ENSP00000501192.1:n.*1848C>T
ENST00000262795.5:c.3246C>T	ENSP00000489147.1:p.Gly1082=
ENST00000414786.6:n.3434C>T
ENST00000445220.5:c.3228C>T	ENSP00000489407.1:p.Gly1076=