Canonical Allele Identifier: CA515262256

Gene: SHANK3

Linked Data

• dbSNP Id: rs1421883124
• gnomAD v2: 22-51159822-A-T
• gnomAD v3: 22-50721394-A-T
• gnomAD v4: 22-50721394-A-T
• MyVariant Identifiers: chr22:g.51159822A>T (hg19) ; chr22:g.50721394A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721394A>T , CM000684.2:g.50721394A>T	GRCh38
NC_000022.10:g.51159822A>T , CM000684.1:g.51159822A>T	GRCh37
NC_000022.9:g.49506688A>T	NCBI36
NG_008607.2:g.52040A>T
NG_070230.1:g.57178A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3162A>T	ENSP00000489147.2:p.Ser1054=
ENST00000414786.7:n.3746A>T
ENST00000445220.7:c.2214A>T	ENSP00000489407.2:p.Ser738=
ENST00000664402.2:c.1704A>T	ENSP00000499475.1:p.Ser568=
ENST00000673971.2:c.*2160A>T	ENSP00000501192.1:n.*2160A>T
ENST00000445220.6:c.2214A>T	ENSP00000489407.2:p.Ser738=
ENST00000262795.6:c.3162A>T	ENSP00000489147.2:p.Ser1054=
ENST00000664402.1:c.1704A>T	ENSP00000499475.1:p.Ser568=
ENST00000673971.1:c.*2160A>T	ENSP00000501192.1:n.*2160A>T
ENST00000262795.5:c.3558A>T	ENSP00000489147.1:p.Ser1186=
ENST00000414786.6:n.3746A>T
ENST00000445220.5:c.3540A>T	ENSP00000489407.1:p.Ser1180=