Canonical Allele Identifier: CA515264940

Gene: SHANK3

Linked Data

• dbSNP Id: rs1210056780
• gnomAD v2: 22-51160689-C-G
• gnomAD v3: 22-50722261-C-G
• gnomAD v4: 22-50722261-C-G
• MyVariant Identifiers: chr22:g.51160689C>G (hg19) ; chr22:g.50722261C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722261C>G , CM000684.2:g.50722261C>G	GRCh38
NC_000022.10:g.51160689C>G , CM000684.1:g.51160689C>G	GRCh37
NC_000022.9:g.49507555C>G	NCBI36
NG_008607.2:g.52907C>G
NG_070230.1:g.58045C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4029C>G	ENSP00000489147.2:p.Asp1343Glu
ENST00000414786.7:n.4613C>G
ENST00000445220.7:c.3081C>G	ENSP00000489407.2:p.Asp1027Glu
ENST00000664402.2:c.2571C>G	ENSP00000499475.1:p.Asp857Glu
ENST00000673971.2:c.*3027C>G	ENSP00000501192.1:n.*3027C>G
ENST00000445220.6:c.3081C>G	ENSP00000489407.2:p.Asp1027Glu
ENST00000262795.6:c.4029C>G	ENSP00000489147.2:p.Asp1343Glu
ENST00000664402.1:c.2571C>G	ENSP00000499475.1:p.Asp857Glu
ENST00000673971.1:c.*3027C>G	ENSP00000501192.1:n.*3027C>G
ENST00000262795.5:c.4425C>G	ENSP00000489147.1:p.Asp1475Glu
ENST00000414786.6:n.4613C>G
ENST00000445220.5:c.4407C>G	ENSP00000489407.1:p.Asp1469Glu