Canonical Allele Identifier: CA515263442

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721771-T-A
• MyVariant Identifiers: chr22:g.51160199T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721771T>A , CM000684.2:g.50721771T>A	GRCh38
NC_000022.10:g.51160199T>A , CM000684.1:g.51160199T>A	GRCh37
NC_000022.9:g.49507065T>A	NCBI36
NG_008607.2:g.52417T>A
NG_070230.1:g.57555T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3539T>A	ENSP00000489147.2:p.Phe1180Tyr
ENST00000414786.7:n.4123T>A
ENST00000445220.7:c.2591T>A	ENSP00000489407.2:p.Phe864Tyr
ENST00000664402.2:c.2081T>A	ENSP00000499475.1:p.Phe694Tyr
ENST00000673971.2:c.*2537T>A	ENSP00000501192.1:n.*2537T>A
ENST00000445220.6:c.2591T>A	ENSP00000489407.2:p.Phe864Tyr
ENST00000262795.6:c.3539T>A	ENSP00000489147.2:p.Phe1180Tyr
ENST00000664402.1:c.2081T>A	ENSP00000499475.1:p.Phe694Tyr
ENST00000673971.1:c.*2537T>A	ENSP00000501192.1:n.*2537T>A
ENST00000262795.5:c.3935T>A	ENSP00000489147.1:p.Phe1312Tyr
ENST00000414786.6:n.4123T>A
ENST00000445220.5:c.3917T>A	ENSP00000489407.1:p.Phe1306Tyr