Canonical Allele Identifier: CA515260184

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720751-G-A
• MyVariant Identifiers: chr22:g.51159179G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720751G>A , CM000684.2:g.50720751G>A	GRCh38
NC_000022.10:g.51159179G>A , CM000684.1:g.51159179G>A	GRCh37
NC_000022.9:g.49506045G>A	NCBI36
NG_008607.2:g.51397G>A
NG_070230.1:g.56535G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2519G>A	ENSP00000489147.2:p.Ser840Asn
ENST00000414786.7:n.3103G>A
ENST00000445220.7:c.1571G>A	ENSP00000489407.2:p.Ser524Asn
ENST00000664402.2:c.1061G>A	ENSP00000499475.1:p.Ser354Asn
ENST00000673971.2:c.*1517G>A	ENSP00000501192.1:n.*1517G>A
ENST00000445220.6:c.1571G>A	ENSP00000489407.2:p.Ser524Asn
ENST00000262795.6:c.2519G>A	ENSP00000489147.2:p.Ser840Asn
ENST00000664402.1:c.1061G>A	ENSP00000499475.1:p.Ser354Asn
ENST00000673971.1:c.*1517G>A	ENSP00000501192.1:n.*1517G>A
ENST00000262795.5:c.2915G>A	ENSP00000489147.1:p.Ser972Asn
ENST00000414786.6:n.3103G>A
ENST00000445220.5:c.2897G>A	ENSP00000489407.1:p.Ser966Asn