Canonical Allele Identifier: CA515262982

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160030C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721602C>A , CM000684.2:g.50721602C>A	GRCh38
NC_000022.10:g.51160030C>A , CM000684.1:g.51160030C>A	GRCh37
NC_000022.9:g.49506896C>A	NCBI36
NG_008607.2:g.52248C>A
NG_070230.1:g.57386C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3370C>A	ENSP00000489147.2:p.Gln1124Lys
ENST00000414786.7:n.3954C>A
ENST00000445220.7:c.2422C>A	ENSP00000489407.2:p.Gln808Lys
ENST00000664402.2:c.1912C>A	ENSP00000499475.1:p.Gln638Lys
ENST00000673971.2:c.*2368C>A	ENSP00000501192.1:n.*2368C>A
ENST00000445220.6:c.2422C>A	ENSP00000489407.2:p.Gln808Lys
ENST00000262795.6:c.3370C>A	ENSP00000489147.2:p.Gln1124Lys
ENST00000664402.1:c.1912C>A	ENSP00000499475.1:p.Gln638Lys
ENST00000673971.1:c.*2368C>A	ENSP00000501192.1:n.*2368C>A
ENST00000262795.5:c.3766C>A	ENSP00000489147.1:p.Gln1256Lys
ENST00000414786.6:n.3954C>A
ENST00000445220.5:c.3748C>A	ENSP00000489407.1:p.Gln1250Lys