Canonical Allele Identifier: CA515254743

Gene: SHANK3

Linked Data

• dbSNP Id: rs1481628621
• gnomAD v2: 22-51135973-T-C
• gnomAD v3: 22-50697545-T-C
• gnomAD v4: 22-50697545-T-C
• MyVariant Identifiers: chr22:g.51135973T>C (hg19) ; chr22:g.50697545T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697545T>C , CM000684.2:g.50697545T>C	GRCh38
NC_000022.10:g.51135973T>C , CM000684.1:g.51135973T>C	GRCh37
NC_000022.9:g.49482839T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-19T>C	ENSP00000489147.2:n.948-19T>C
ENST00000414786.7:n.1532-19T>C
ENST00000673971.2:c.1305-19T>C	ENSP00000501192.1:n.1305-19T>C
ENST00000262795.6:c.948-19T>C	ENSP00000489147.2:n.948-19T>C
ENST00000673971.1:c.1305-19T>C	ENSP00000501192.1:n.1305-19T>C
ENST00000262795.5:c.1345-20T>C	ENSP00000489147.1:n.1345-20T>C
ENST00000414786.6:n.1532-19T>C
ENST00000445220.5:c.1326-19T>C	ENSP00000489407.1:n.1326-19T>C