Canonical Allele Identifier: CA515263531

Gene: SHANK3

Linked Data

• dbSNP Id: rs1238146150
• gnomAD v2: 22-51160227-A-T
• gnomAD v4: 22-50721799-A-T
• MyVariant Identifiers: chr22:g.51160227A>T (hg19) ; chr22:g.50721799A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721799A>T , CM000684.2:g.50721799A>T	GRCh38
NC_000022.10:g.51160227A>T , CM000684.1:g.51160227A>T	GRCh37
NC_000022.9:g.49507093A>T	NCBI36
NG_008607.2:g.52445A>T
NG_070230.1:g.57583A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3567A>T	ENSP00000489147.2:p.Pro1189=
ENST00000414786.7:n.4151A>T
ENST00000445220.7:c.2619A>T	ENSP00000489407.2:p.Pro873=
ENST00000664402.2:c.2109A>T	ENSP00000499475.1:p.Pro703=
ENST00000673971.2:c.*2565A>T	ENSP00000501192.1:n.*2565A>T
ENST00000445220.6:c.2619A>T	ENSP00000489407.2:p.Pro873=
ENST00000262795.6:c.3567A>T	ENSP00000489147.2:p.Pro1189=
ENST00000664402.1:c.2109A>T	ENSP00000499475.1:p.Pro703=
ENST00000673971.1:c.*2565A>T	ENSP00000501192.1:n.*2565A>T
ENST00000262795.5:c.3963A>T	ENSP00000489147.1:p.Pro1321=
ENST00000414786.6:n.4151A>T
ENST00000445220.5:c.3945A>T	ENSP00000489407.1:p.Pro1315=