Canonical Allele Identifier: CA515264852

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160663C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722235C>A , CM000684.2:g.50722235C>A	GRCh38
NC_000022.10:g.51160663C>A , CM000684.1:g.51160663C>A	GRCh37
NC_000022.9:g.49507529C>A	NCBI36
NG_008607.2:g.52881C>A
NG_070230.1:g.58019C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4003C>A	ENSP00000489147.2:p.Gln1335Lys
ENST00000414786.7:n.4587C>A
ENST00000445220.7:c.3055C>A	ENSP00000489407.2:p.Gln1019Lys
ENST00000664402.2:c.2545C>A	ENSP00000499475.1:p.Gln849Lys
ENST00000673971.2:c.*3001C>A	ENSP00000501192.1:n.*3001C>A
ENST00000445220.6:c.3055C>A	ENSP00000489407.2:p.Gln1019Lys
ENST00000262795.6:c.4003C>A	ENSP00000489147.2:p.Gln1335Lys
ENST00000664402.1:c.2545C>A	ENSP00000499475.1:p.Gln849Lys
ENST00000673971.1:c.*3001C>A	ENSP00000501192.1:n.*3001C>A
ENST00000262795.5:c.4399C>A	ENSP00000489147.1:p.Gln1467Lys
ENST00000414786.6:n.4587C>A
ENST00000445220.5:c.4381C>A	ENSP00000489407.1:p.Gln1461Lys