Canonical Allele Identifier: CA515263607

Gene: SHANK3

Linked Data

• dbSNP Id: rs1302924702
• gnomAD v2: 22-51160251-C-T
• gnomAD v4: 22-50721823-C-T
• MyVariant Identifiers: chr22:g.51160251C>T (hg19) ; chr22:g.50721823C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721823C>T , CM000684.2:g.50721823C>T	GRCh38
NC_000022.10:g.51160251C>T , CM000684.1:g.51160251C>T	GRCh37
NC_000022.9:g.49507117C>T	NCBI36
NG_008607.2:g.52469C>T
NG_070230.1:g.57607C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3591C>T	ENSP00000489147.2:p.Pro1197=
ENST00000414786.7:n.4175C>T
ENST00000445220.7:c.2643C>T	ENSP00000489407.2:p.Pro881=
ENST00000664402.2:c.2133C>T	ENSP00000499475.1:p.Pro711=
ENST00000673971.2:c.*2589C>T	ENSP00000501192.1:n.*2589C>T
ENST00000445220.6:c.2643C>T	ENSP00000489407.2:p.Pro881=
ENST00000262795.6:c.3591C>T	ENSP00000489147.2:p.Pro1197=
ENST00000664402.1:c.2133C>T	ENSP00000499475.1:p.Pro711=
ENST00000673971.1:c.*2589C>T	ENSP00000501192.1:n.*2589C>T
ENST00000262795.5:c.3987C>T	ENSP00000489147.1:p.Pro1329=
ENST00000414786.6:n.4175C>T
ENST00000445220.5:c.3969C>T	ENSP00000489407.1:p.Pro1323=