Canonical Allele Identifier: CA515259820

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083276342
• gnomAD v4: 22-50720628-C-G
• MyVariant Identifiers: chr22:g.51159056C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720628C>G , CM000684.2:g.50720628C>G	GRCh38
NC_000022.10:g.51159056C>G , CM000684.1:g.51159056C>G	GRCh37
NC_000022.9:g.49505922C>G	NCBI36
NG_008607.2:g.51274C>G
NG_070230.1:g.56412C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2396C>G	ENSP00000489147.2:p.Ala799Gly
ENST00000414786.7:n.2980C>G
ENST00000445220.7:c.1448C>G	ENSP00000489407.2:p.Ala483Gly
ENST00000664402.2:c.938C>G	ENSP00000499475.1:p.Ala313Gly
ENST00000673971.2:c.*1394C>G	ENSP00000501192.1:n.*1394C>G
ENST00000445220.6:c.1448C>G	ENSP00000489407.2:p.Ala483Gly
ENST00000262795.6:c.2396C>G	ENSP00000489147.2:p.Ala799Gly
ENST00000664402.1:c.938C>G	ENSP00000499475.1:p.Ala313Gly
ENST00000673971.1:c.*1394C>G	ENSP00000501192.1:n.*1394C>G
ENST00000262795.5:c.2792C>G	ENSP00000489147.1:p.Ala931Gly
ENST00000414786.6:n.2980C>G
ENST00000445220.5:c.2774C>G	ENSP00000489407.1:p.Ala925Gly