Canonical Allele Identifier: CA515259695

Gene: SHANK3

Linked Data

• dbSNP Id: rs922625356
• gnomAD v3: 22-50720585-C-G
• gnomAD v4: 22-50720585-C-G
• MyVariant Identifiers: chr22:g.51159013C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720585C>G , CM000684.2:g.50720585C>G	GRCh38
NC_000022.10:g.51159013C>G , CM000684.1:g.51159013C>G	GRCh37
NC_000022.9:g.49505879C>G	NCBI36
NG_008607.2:g.51231C>G
NG_070230.1:g.56369C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2353C>G	ENSP00000489147.2:p.Pro785Ala
ENST00000414786.7:n.2937C>G
ENST00000445220.7:c.1405C>G	ENSP00000489407.2:p.Pro469Ala
ENST00000664402.2:c.895C>G	ENSP00000499475.1:p.Pro299Ala
ENST00000673971.2:c.*1351C>G	ENSP00000501192.1:n.*1351C>G
ENST00000445220.6:c.1405C>G	ENSP00000489407.2:p.Pro469Ala
ENST00000262795.6:c.2353C>G	ENSP00000489147.2:p.Pro785Ala
ENST00000664402.1:c.895C>G	ENSP00000499475.1:p.Pro299Ala
ENST00000673971.1:c.*1351C>G	ENSP00000501192.1:n.*1351C>G
ENST00000262795.5:c.2749C>G	ENSP00000489147.1:p.Pro917Ala
ENST00000414786.6:n.2937C>G
ENST00000445220.5:c.2731C>G	ENSP00000489407.1:p.Pro911Ala