Canonical Allele Identifier: CA515262494

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721459-T-A
• MyVariant Identifiers: chr22:g.51159887T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721459T>A , CM000684.2:g.50721459T>A	GRCh38
NC_000022.10:g.51159887T>A , CM000684.1:g.51159887T>A	GRCh37
NC_000022.9:g.49506753T>A	NCBI36
NG_008607.2:g.52105T>A
NG_070230.1:g.57243T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3227T>A	ENSP00000489147.2:p.Leu1076His
ENST00000414786.7:n.3811T>A
ENST00000445220.7:c.2279T>A	ENSP00000489407.2:p.Leu760His
ENST00000664402.2:c.1769T>A	ENSP00000499475.1:p.Leu590His
ENST00000673971.2:c.*2225T>A	ENSP00000501192.1:n.*2225T>A
ENST00000445220.6:c.2279T>A	ENSP00000489407.2:p.Leu760His
ENST00000262795.6:c.3227T>A	ENSP00000489147.2:p.Leu1076His
ENST00000664402.1:c.1769T>A	ENSP00000499475.1:p.Leu590His
ENST00000673971.1:c.*2225T>A	ENSP00000501192.1:n.*2225T>A
ENST00000262795.5:c.3623T>A	ENSP00000489147.1:p.Leu1208His
ENST00000414786.6:n.3811T>A
ENST00000445220.5:c.3605T>A	ENSP00000489407.1:p.Leu1202His