Canonical Allele Identifier: CA515259252

Gene: SHANK3

Linked Data

• dbSNP Id: rs1290456581
• gnomAD v3: 22-50720433-C-A
• gnomAD v4: 22-50720433-C-A
• MyVariant Identifiers: chr22:g.51158861C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720433C>A , CM000684.2:g.50720433C>A	GRCh38
NC_000022.10:g.51158861C>A , CM000684.1:g.51158861C>A	GRCh37
NC_000022.9:g.49505727C>A	NCBI36
NG_008607.2:g.51079C>A
NG_070230.1:g.56217C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2201C>A	ENSP00000489147.2:p.Ala734Asp
ENST00000414786.7:n.2785C>A
ENST00000445220.7:c.1253C>A	ENSP00000489407.2:p.Ala418Asp
ENST00000664402.2:c.743C>A	ENSP00000499475.1:p.Ala248Asp
ENST00000673971.2:c.*1199C>A	ENSP00000501192.1:n.*1199C>A
ENST00000445220.6:c.1253C>A	ENSP00000489407.2:p.Ala418Asp
ENST00000262795.6:c.2201C>A	ENSP00000489147.2:p.Ala734Asp
ENST00000664402.1:c.743C>A	ENSP00000499475.1:p.Ala248Asp
ENST00000673971.1:c.*1199C>A	ENSP00000501192.1:n.*1199C>A
ENST00000262795.5:c.2597C>A	ENSP00000489147.1:p.Ala866Asp
ENST00000414786.6:n.2785C>A
ENST00000445220.5:c.2579C>A	ENSP00000489407.1:p.Ala860Asp