Canonical Allele Identifier: CA515259337

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720463-T-A
• MyVariant Identifiers: chr22:g.51158891T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720463T>A , CM000684.2:g.50720463T>A	GRCh38
NC_000022.10:g.51158891T>A , CM000684.1:g.51158891T>A	GRCh37
NC_000022.9:g.49505757T>A	NCBI36
NG_008607.2:g.51109T>A
NG_070230.1:g.56247T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2231T>A	ENSP00000489147.2:p.Leu744His
ENST00000414786.7:n.2815T>A
ENST00000445220.7:c.1283T>A	ENSP00000489407.2:p.Leu428His
ENST00000664402.2:c.773T>A	ENSP00000499475.1:p.Leu258His
ENST00000673971.2:c.*1229T>A	ENSP00000501192.1:n.*1229T>A
ENST00000445220.6:c.1283T>A	ENSP00000489407.2:p.Leu428His
ENST00000262795.6:c.2231T>A	ENSP00000489147.2:p.Leu744His
ENST00000664402.1:c.773T>A	ENSP00000499475.1:p.Leu258His
ENST00000673971.1:c.*1229T>A	ENSP00000501192.1:n.*1229T>A
ENST00000262795.5:c.2627T>A	ENSP00000489147.1:p.Leu876His
ENST00000414786.6:n.2815T>A
ENST00000445220.5:c.2609T>A	ENSP00000489407.1:p.Leu870His