Canonical Allele Identifier: CA515263560

Gene: SHANK3

Linked Data

• dbSNP Id: rs1462501258
• gnomAD v3: 22-50721808-C-T
• gnomAD v4: 22-50721808-C-T
• MyVariant Identifiers: chr22:g.51160236C>T (hg19) ; chr22:g.50721808C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721808C>T , CM000684.2:g.50721808C>T	GRCh38
NC_000022.10:g.51160236C>T , CM000684.1:g.51160236C>T	GRCh37
NC_000022.9:g.49507102C>T	NCBI36
NG_008607.2:g.52454C>T
NG_070230.1:g.57592C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3576C>T	ENSP00000489147.2:p.Gly1192=
ENST00000414786.7:n.4160C>T
ENST00000445220.7:c.2628C>T	ENSP00000489407.2:p.Gly876=
ENST00000664402.2:c.2118C>T	ENSP00000499475.1:p.Gly706=
ENST00000673971.2:c.*2574C>T	ENSP00000501192.1:n.*2574C>T
ENST00000445220.6:c.2628C>T	ENSP00000489407.2:p.Gly876=
ENST00000262795.6:c.3576C>T	ENSP00000489147.2:p.Gly1192=
ENST00000664402.1:c.2118C>T	ENSP00000499475.1:p.Gly706=
ENST00000673971.1:c.*2574C>T	ENSP00000501192.1:n.*2574C>T
ENST00000262795.5:c.3972C>T	ENSP00000489147.1:p.Gly1324=
ENST00000414786.6:n.4160C>T
ENST00000445220.5:c.3954C>T	ENSP00000489407.1:p.Gly1318=