Canonical Allele Identifier: CA515259332

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720461-C-G
• MyVariant Identifiers: chr22:g.51158889C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720461C>G , CM000684.2:g.50720461C>G	GRCh38
NC_000022.10:g.51158889C>G , CM000684.1:g.51158889C>G	GRCh37
NC_000022.9:g.49505755C>G	NCBI36
NG_008607.2:g.51107C>G
NG_070230.1:g.56245C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2229C>G	ENSP00000489147.2:p.Ala743=
ENST00000414786.7:n.2813C>G
ENST00000445220.7:c.1281C>G	ENSP00000489407.2:p.Ala427=
ENST00000664402.2:c.771C>G	ENSP00000499475.1:p.Ala257=
ENST00000673971.2:c.*1227C>G	ENSP00000501192.1:n.*1227C>G
ENST00000445220.6:c.1281C>G	ENSP00000489407.2:p.Ala427=
ENST00000262795.6:c.2229C>G	ENSP00000489147.2:p.Ala743=
ENST00000664402.1:c.771C>G	ENSP00000499475.1:p.Ala257=
ENST00000673971.1:c.*1227C>G	ENSP00000501192.1:n.*1227C>G
ENST00000262795.5:c.2625C>G	ENSP00000489147.1:p.Ala875=
ENST00000414786.6:n.2813C>G
ENST00000445220.5:c.2607C>G	ENSP00000489407.1:p.Ala869=