Canonical Allele Identifier: CA515254913

Gene: SHANK3

Linked Data

• dbSNP Id: rs1178664707
• gnomAD v3: 22-50697588-A-C
• gnomAD v4: 22-50697588-A-C
• MyVariant Identifiers: chr22:g.51136016A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697588A>C , CM000684.2:g.50697588A>C	GRCh38
NC_000022.10:g.51136016A>C , CM000684.1:g.51136016A>C	GRCh37
NC_000022.9:g.49482882A>C	NCBI36
NG_008607.2:g.28234A>C
NG_070230.1:g.33453A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.972A>C	ENSP00000489147.2:p.Ala324=
ENST00000414786.7:n.1556A>C
ENST00000445220.7:c.24A>C	ENSP00000489407.2:p.Ala8=
ENST00000673971.2:c.1329A>C	ENSP00000501192.1:p.Ala443=
ENST00000445220.6:c.24A>C	ENSP00000489407.2:p.Ala8=
ENST00000262795.6:c.972A>C	ENSP00000489147.2:p.Ala324=
ENST00000673971.1:c.1329A>C	ENSP00000501192.1:p.Ala443=
ENST00000673995.1:c.25A>C
ENST00000262795.5:c.1368A>C	ENSP00000489147.1:p.Ala456=
ENST00000414786.6:n.1556A>C
ENST00000445220.5:c.1350A>C	ENSP00000489407.1:p.Ala450=