Canonical Allele Identifier: CA204127

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 207875
• ClinVar RCV Id: RCV000190162
• dbSNP Id: rs1555909545
• gnomAD v4: 22-50714925-G-A
• MyVariant Identifiers: chr22:g.51153353G>A (hg19) ; chr22:g.50714925G>A (hg38)
• PubMed: PMID:26132555

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50714925G>A , CM000684.2:g.50714925G>A	GRCh38
NC_000022.10:g.51153353G>A , CM000684.1:g.51153353G>A	GRCh37
NC_000022.9:g.49500219G>A	NCBI36
NG_008607.2:g.45571G>A
NG_070230.1:g.50791G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.1744G>A	ENSP00000489147.2:p.Asp582Asn
ENST00000414786.7:n.2328G>A
ENST00000445220.7:c.796G>A	ENSP00000489407.2:p.Asp266Asn
ENST00000664402.2:c.286G>A	ENSP00000499475.1:p.Asp96Asn
ENST00000673971.2:c.*742G>A	ENSP00000501192.1:n.*742G>A
ENST00000445220.6:c.796G>A	ENSP00000489407.2:p.Asp266Asn
ENST00000262795.6:c.1744G>A	ENSP00000489147.2:p.Asp582Asn
ENST00000664402.1:c.286G>A	ENSP00000499475.1:p.Asp96Asn
ENST00000673971.1:c.*742G>A	ENSP00000501192.1:n.*742G>A
ENST00000262795.5:c.2140G>A	ENSP00000489147.1:p.Asp714Asn
ENST00000414786.6:n.2328G>A
ENST00000445220.5:c.2122G>A	ENSP00000489407.1:p.Asp708Asn