Canonical Allele Identifier: CA515259890

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720650-C-G
• MyVariant Identifiers: chr22:g.51159078C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720650C>G , CM000684.2:g.50720650C>G	GRCh38
NC_000022.10:g.51159078C>G , CM000684.1:g.51159078C>G	GRCh37
NC_000022.9:g.49505944C>G	NCBI36
NG_008607.2:g.51296C>G
NG_070230.1:g.56434C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2418C>G	ENSP00000489147.2:p.Ala806=
ENST00000414786.7:n.3002C>G
ENST00000445220.7:c.1470C>G	ENSP00000489407.2:p.Ala490=
ENST00000664402.2:c.960C>G	ENSP00000499475.1:p.Ala320=
ENST00000673971.2:c.*1416C>G	ENSP00000501192.1:n.*1416C>G
ENST00000445220.6:c.1470C>G	ENSP00000489407.2:p.Ala490=
ENST00000262795.6:c.2418C>G	ENSP00000489147.2:p.Ala806=
ENST00000664402.1:c.960C>G	ENSP00000499475.1:p.Ala320=
ENST00000673971.1:c.*1416C>G	ENSP00000501192.1:n.*1416C>G
ENST00000262795.5:c.2814C>G	ENSP00000489147.1:p.Ala938=
ENST00000414786.6:n.3002C>G
ENST00000445220.5:c.2796C>G	ENSP00000489407.1:p.Ala932=