Canonical Allele Identifier: CA515261847

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083285926
• gnomAD v4: 22-50721331-A-T
• MyVariant Identifiers: chr22:g.51159759A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721331A>T , CM000684.2:g.50721331A>T	GRCh38
NC_000022.10:g.51159759A>T , CM000684.1:g.51159759A>T	GRCh37
NC_000022.9:g.49506625A>T	NCBI36
NG_008607.2:g.51977A>T
NG_070230.1:g.57115A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3099A>T	ENSP00000489147.2:p.Pro1033=
ENST00000414786.7:n.3683A>T
ENST00000445220.7:c.2151A>T	ENSP00000489407.2:p.Pro717=
ENST00000664402.2:c.1641A>T	ENSP00000499475.1:p.Pro547=
ENST00000673971.2:c.*2097A>T	ENSP00000501192.1:n.*2097A>T
ENST00000445220.6:c.2151A>T	ENSP00000489407.2:p.Pro717=
ENST00000262795.6:c.3099A>T	ENSP00000489147.2:p.Pro1033=
ENST00000664402.1:c.1641A>T	ENSP00000499475.1:p.Pro547=
ENST00000673971.1:c.*2097A>T	ENSP00000501192.1:n.*2097A>T
ENST00000262795.5:c.3495A>T	ENSP00000489147.1:p.Pro1165=
ENST00000414786.6:n.3683A>T
ENST00000445220.5:c.3477A>T	ENSP00000489407.1:p.Pro1159=