Canonical Allele Identifier: CA515259039

Gene: SHANK3

Linked Data

• dbSNP Id: rs1342770352
• gnomAD v4: 22-50720359-C-G
• MyVariant Identifiers: chr22:g.51158787C>G (hg19) ; chr22:g.50720359C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720359C>G , CM000684.2:g.50720359C>G	GRCh38
NC_000022.10:g.51158787C>G , CM000684.1:g.51158787C>G	GRCh37
NC_000022.9:g.49505653C>G	NCBI36
NG_008607.2:g.51005C>G
NG_070230.1:g.56143C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2127C>G	ENSP00000489147.2:p.Pro709=
ENST00000414786.7:n.2711C>G
ENST00000445220.7:c.1179C>G	ENSP00000489407.2:p.Pro393=
ENST00000664402.2:c.669C>G	ENSP00000499475.1:p.Pro223=
ENST00000673971.2:c.*1125C>G	ENSP00000501192.1:n.*1125C>G
ENST00000445220.6:c.1179C>G	ENSP00000489407.2:p.Pro393=
ENST00000262795.6:c.2127C>G	ENSP00000489147.2:p.Pro709=
ENST00000664402.1:c.669C>G	ENSP00000499475.1:p.Pro223=
ENST00000673971.1:c.*1125C>G	ENSP00000501192.1:n.*1125C>G
ENST00000262795.5:c.2523C>G	ENSP00000489147.1:p.Pro841=
ENST00000414786.6:n.2711C>G
ENST00000445220.5:c.2505C>G	ENSP00000489407.1:p.Pro835=