Canonical Allele Identifier: CA515259026

Gene: SHANK3

Linked Data

• dbSNP Id: rs1284133048
• gnomAD v4: 22-50720355-C-A
• MyVariant Identifiers: chr22:g.51158783C>A (hg19) ; chr22:g.50720355C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720355C>A , CM000684.2:g.50720355C>A	GRCh38
NC_000022.10:g.51158783C>A , CM000684.1:g.51158783C>A	GRCh37
NC_000022.9:g.49505649C>A	NCBI36
NG_008607.2:g.51001C>A
NG_070230.1:g.56139C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2123C>A	ENSP00000489147.2:p.Pro708Gln
ENST00000414786.7:n.2707C>A
ENST00000445220.7:c.1175C>A	ENSP00000489407.2:p.Pro392Gln
ENST00000664402.2:c.665C>A	ENSP00000499475.1:p.Pro222Gln
ENST00000673971.2:c.*1121C>A	ENSP00000501192.1:n.*1121C>A
ENST00000445220.6:c.1175C>A	ENSP00000489407.2:p.Pro392Gln
ENST00000262795.6:c.2123C>A	ENSP00000489147.2:p.Pro708Gln
ENST00000664402.1:c.665C>A	ENSP00000499475.1:p.Pro222Gln
ENST00000673971.1:c.*1121C>A	ENSP00000501192.1:n.*1121C>A
ENST00000262795.5:c.2519C>A	ENSP00000489147.1:p.Pro840Gln
ENST00000414786.6:n.2707C>A
ENST00000445220.5:c.2501C>A	ENSP00000489407.1:p.Pro834Gln