Canonical Allele Identifier: CA10326275

Gene: SHANK3

Linked Data

• dbSNP Id: rs775305233
• ExAC: 22:51160647 C / T
• gnomAD v2: 22-51160647-C-T
• gnomAD v4: 22-50722219-C-T
• MyVariant Identifiers: chr22:g.51160647C>T (hg19) ; chr22:g.50722219C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722219C>T , CM000684.2:g.50722219C>T	GRCh38
NC_000022.10:g.51160647C>T , CM000684.1:g.51160647C>T	GRCh37
NC_000022.9:g.49507513C>T	NCBI36
NG_008607.2:g.52865C>T
NG_070230.1:g.58003C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3987C>T	ENSP00000489147.2:p.Arg1329=
ENST00000414786.7:n.4571C>T
ENST00000445220.7:c.3039C>T	ENSP00000489407.2:p.Arg1013=
ENST00000664402.2:c.2529C>T	ENSP00000499475.1:p.Arg843=
ENST00000673971.2:c.*2985C>T	ENSP00000501192.1:n.*2985C>T
ENST00000445220.6:c.3039C>T	ENSP00000489407.2:p.Arg1013=
ENST00000262795.6:c.3987C>T	ENSP00000489147.2:p.Arg1329=
ENST00000664402.1:c.2529C>T	ENSP00000499475.1:p.Arg843=
ENST00000673971.1:c.*2985C>T	ENSP00000501192.1:n.*2985C>T
ENST00000262795.5:c.4383C>T	ENSP00000489147.1:p.Arg1461=
ENST00000414786.6:n.4571C>T
ENST00000445220.5:c.4365C>T	ENSP00000489407.1:p.Arg1455=