Canonical Allele Identifier: CA10326145

Gene: SHANK3

Linked Data

• dbSNP Id: rs773137381
• ExAC: 22:51160060 G / C
• gnomAD v2: 22-51160060-G-C
• gnomAD v4: 22-50721632-G-C
• MyVariant Identifiers: chr22:g.51160060G>C (hg19) ; chr22:g.50721632G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721632G>C , CM000684.2:g.50721632G>C	GRCh38
NC_000022.10:g.51160060G>C , CM000684.1:g.51160060G>C	GRCh37
NC_000022.9:g.49506926G>C	NCBI36
NG_008607.2:g.52278G>C
NG_070230.1:g.57416G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3400G>C	ENSP00000489147.2:p.Gly1134Arg
ENST00000414786.7:n.3984G>C
ENST00000445220.7:c.2452G>C	ENSP00000489407.2:p.Gly818Arg
ENST00000664402.2:c.1942G>C	ENSP00000499475.1:p.Gly648Arg
ENST00000673971.2:c.*2398G>C	ENSP00000501192.1:n.*2398G>C
ENST00000445220.6:c.2452G>C	ENSP00000489407.2:p.Gly818Arg
ENST00000262795.6:c.3400G>C	ENSP00000489147.2:p.Gly1134Arg
ENST00000664402.1:c.1942G>C	ENSP00000499475.1:p.Gly648Arg
ENST00000673971.1:c.*2398G>C	ENSP00000501192.1:n.*2398G>C
ENST00000262795.5:c.3796G>C	ENSP00000489147.1:p.Gly1266Arg
ENST00000414786.6:n.3984G>C
ENST00000445220.5:c.3778G>C	ENSP00000489407.1:p.Gly1260Arg