Canonical Allele Identifier: CA515259008

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720349-C-A
• MyVariant Identifiers: chr22:g.51158777C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720349C>A , CM000684.2:g.50720349C>A	GRCh38
NC_000022.10:g.51158777C>A , CM000684.1:g.51158777C>A	GRCh37
NC_000022.9:g.49505643C>A	NCBI36
NG_008607.2:g.50995C>A
NG_070230.1:g.56133C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2117C>A	ENSP00000489147.2:p.Ser706Ter
ENST00000414786.7:n.2701C>A
ENST00000445220.7:c.1169C>A	ENSP00000489407.2:p.Ser390Ter
ENST00000664402.2:c.659C>A	ENSP00000499475.1:p.Ser220Ter
ENST00000673971.2:c.*1115C>A	ENSP00000501192.1:n.*1115C>A
ENST00000445220.6:c.1169C>A	ENSP00000489407.2:p.Ser390Ter
ENST00000262795.6:c.2117C>A	ENSP00000489147.2:p.Ser706Ter
ENST00000664402.1:c.659C>A	ENSP00000499475.1:p.Ser220Ter
ENST00000673971.1:c.*1115C>A	ENSP00000501192.1:n.*1115C>A
ENST00000262795.5:c.2513C>A	ENSP00000489147.1:p.Ser838Ter
ENST00000414786.6:n.2701C>A
ENST00000445220.5:c.2495C>A	ENSP00000489407.1:p.Ser832Ter