Canonical Allele Identifier: CA263235

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 50949
• ClinVar RCV Id: RCV000043655 ; RCV001804766
• dbSNP Id: rs397514705
• MyVariant Identifiers: chr22:g.51117094C>G (hg19) ; chr22:g.50678666C>G (hg38)
• PubMed: PMID:22892527

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50678666C>G , CM000684.2:g.50678666C>G	GRCh38
NC_000022.10:g.51117094C>G , CM000684.1:g.51117094C>G	GRCh37
NC_000022.9:g.49463960C>G	NCBI36
NG_008607.2:g.9025C>G
NG_070230.1:g.14431C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.64C>G	ENSP00000489147.2:p.Pro22Ala
ENST00000414786.7:n.648C>G
ENST00000673971.2:c.421C>G	ENSP00000501192.1:p.Pro141Ala
ENST00000691768.1:n.384C>G
ENST00000692848.1:c.421C>G	ENSP00000510794.1:p.Pro141Ala
ENST00000262795.6:c.64C>G	ENSP00000489147.2:p.Pro22Ala
ENST00000673971.1:c.421C>G	ENSP00000501192.1:p.Pro141Ala
ENST00000262795.5:c.421C>G	ENSP00000489147.1:p.Pro141Ala
ENST00000414786.6:n.648C>G
ENST00000445220.5:c.421C>G	ENSP00000489407.1:p.Pro141Ala
NM_033517.1:c.421C>G	NP_277052.1:p.Pro141Ala
NM_001372044.1:c.646C>G	NP_001358973.1:p.Pro216Ala
NM_001372044.2:c.646C>G MANE Select	NP_001358973.1:p.Pro216Ala