Canonical Allele Identifier: CA515264664

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160604A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722176A>G , CM000684.2:g.50722176A>G	GRCh38
NC_000022.10:g.51160604A>G , CM000684.1:g.51160604A>G	GRCh37
NC_000022.9:g.49507470A>G	NCBI36
NG_008607.2:g.52822A>G
NG_070230.1:g.57960A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3944A>G	ENSP00000489147.2:p.His1315Arg
ENST00000414786.7:n.4528A>G
ENST00000445220.7:c.2996A>G	ENSP00000489407.2:p.His999Arg
ENST00000664402.2:c.2486A>G	ENSP00000499475.1:p.His829Arg
ENST00000673971.2:c.*2942A>G	ENSP00000501192.1:n.*2942A>G
ENST00000445220.6:c.2996A>G	ENSP00000489407.2:p.His999Arg
ENST00000262795.6:c.3944A>G	ENSP00000489147.2:p.His1315Arg
ENST00000664402.1:c.2486A>G	ENSP00000499475.1:p.His829Arg
ENST00000673971.1:c.*2942A>G	ENSP00000501192.1:n.*2942A>G
ENST00000262795.5:c.4340A>G	ENSP00000489147.1:p.His1447Arg
ENST00000414786.6:n.4528A>G
ENST00000445220.5:c.4322A>G	ENSP00000489407.1:p.His1441Arg