Canonical Allele Identifier: CA325579393

Gene: SHANK3

Linked Data

• dbSNP Id: rs753314270
• gnomAD v2: 22-51159977-C-A
• gnomAD v3: 22-50721549-C-A
• gnomAD v4: 22-50721549-C-A
• MyVariant Identifiers: chr22:g.51159977C>A (hg19) ; chr22:g.50721549C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721549C>A , CM000684.2:g.50721549C>A	GRCh38
NC_000022.10:g.51159977C>A , CM000684.1:g.51159977C>A	GRCh37
NC_000022.9:g.49506843C>A	NCBI36
NG_008607.2:g.52195C>A
NG_070230.1:g.57333C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3317C>A	ENSP00000489147.2:p.Pro1106Gln
ENST00000414786.7:n.3901C>A
ENST00000445220.7:c.2369C>A	ENSP00000489407.2:p.Pro790Gln
ENST00000664402.2:c.1859C>A	ENSP00000499475.1:p.Pro620Gln
ENST00000673971.2:c.*2315C>A	ENSP00000501192.1:n.*2315C>A
ENST00000445220.6:c.2369C>A	ENSP00000489407.2:p.Pro790Gln
ENST00000262795.6:c.3317C>A	ENSP00000489147.2:p.Pro1106Gln
ENST00000664402.1:c.1859C>A	ENSP00000499475.1:p.Pro620Gln
ENST00000673971.1:c.*2315C>A	ENSP00000501192.1:n.*2315C>A
ENST00000262795.5:c.3713C>A	ENSP00000489147.1:p.Pro1238Gln
ENST00000414786.6:n.3901C>A
ENST00000445220.5:c.3695C>A	ENSP00000489407.1:p.Pro1232Gln