Canonical Allele Identifier: CA515262545

Gene: SHANK3

Linked Data

• dbSNP Id: rs1275130678
• gnomAD v2: 22-51159898-C-T
• gnomAD v4: 22-50721470-C-T
• MyVariant Identifiers: chr22:g.51159898C>T (hg19) ; chr22:g.50721470C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721470C>T , CM000684.2:g.50721470C>T	GRCh38
NC_000022.10:g.51159898C>T , CM000684.1:g.51159898C>T	GRCh37
NC_000022.9:g.49506764C>T	NCBI36
NG_008607.2:g.52116C>T
NG_070230.1:g.57254C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3238C>T	ENSP00000489147.2:p.His1080Tyr
ENST00000414786.7:n.3822C>T
ENST00000445220.7:c.2290C>T	ENSP00000489407.2:p.His764Tyr
ENST00000664402.2:c.1780C>T	ENSP00000499475.1:p.His594Tyr
ENST00000673971.2:c.*2236C>T	ENSP00000501192.1:n.*2236C>T
ENST00000445220.6:c.2290C>T	ENSP00000489407.2:p.His764Tyr
ENST00000262795.6:c.3238C>T	ENSP00000489147.2:p.His1080Tyr
ENST00000664402.1:c.1780C>T	ENSP00000499475.1:p.His594Tyr
ENST00000673971.1:c.*2236C>T	ENSP00000501192.1:n.*2236C>T
ENST00000262795.5:c.3634C>T	ENSP00000489147.1:p.His1212Tyr
ENST00000414786.6:n.3822C>T
ENST00000445220.5:c.3616C>T	ENSP00000489407.1:p.His1206Tyr