Canonical Allele Identifier: CA515259829

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720631-A-G
• MyVariant Identifiers: chr22:g.51159059A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720631A>G , CM000684.2:g.50720631A>G	GRCh38
NC_000022.10:g.51159059A>G , CM000684.1:g.51159059A>G	GRCh37
NC_000022.9:g.49505925A>G	NCBI36
NG_008607.2:g.51277A>G
NG_070230.1:g.56415A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2399A>G	ENSP00000489147.2:p.Asn800Ser
ENST00000414786.7:n.2983A>G
ENST00000445220.7:c.1451A>G	ENSP00000489407.2:p.Asn484Ser
ENST00000664402.2:c.941A>G	ENSP00000499475.1:p.Asn314Ser
ENST00000673971.2:c.*1397A>G	ENSP00000501192.1:n.*1397A>G
ENST00000445220.6:c.1451A>G	ENSP00000489407.2:p.Asn484Ser
ENST00000262795.6:c.2399A>G	ENSP00000489147.2:p.Asn800Ser
ENST00000664402.1:c.941A>G	ENSP00000499475.1:p.Asn314Ser
ENST00000673971.1:c.*1397A>G	ENSP00000501192.1:n.*1397A>G
ENST00000262795.5:c.2795A>G	ENSP00000489147.1:p.Asn932Ser
ENST00000414786.6:n.2983A>G
ENST00000445220.5:c.2777A>G	ENSP00000489407.1:p.Asn926Ser