Canonical Allele Identifier: CA515260278

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1275796
• ClinVar RCV Id: RCV001682673
• dbSNP Id: rs2083278313
• gnomAD v4: 22-50720783-G-T
• MyVariant Identifiers: chr22:g.51159211G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720783G>T , CM000684.2:g.50720783G>T	GRCh38
NC_000022.10:g.51159211G>T , CM000684.1:g.51159211G>T	GRCh37
NC_000022.9:g.49506077G>T	NCBI36
NG_008607.2:g.51429G>T
NG_070230.1:g.56567G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2551G>T	ENSP00000489147.2:p.Glu851Ter
ENST00000414786.7:n.3135G>T
ENST00000445220.7:c.1603G>T	ENSP00000489407.2:p.Glu535Ter
ENST00000664402.2:c.1093G>T	ENSP00000499475.1:p.Glu365Ter
ENST00000673971.2:c.*1549G>T	ENSP00000501192.1:n.*1549G>T
ENST00000445220.6:c.1603G>T	ENSP00000489407.2:p.Glu535Ter
ENST00000262795.6:c.2551G>T	ENSP00000489147.2:p.Glu851Ter
ENST00000664402.1:c.1093G>T	ENSP00000499475.1:p.Glu365Ter
ENST00000673971.1:c.*1549G>T	ENSP00000501192.1:n.*1549G>T
ENST00000262795.5:c.2947G>T	ENSP00000489147.1:p.Glu983Ter
ENST00000414786.6:n.3135G>T
ENST00000445220.5:c.2929G>T	ENSP00000489407.1:p.Glu977Ter