Canonical Allele Identifier: CA515264551

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160567C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722139C>G , CM000684.2:g.50722139C>G	GRCh38
NC_000022.10:g.51160567C>G , CM000684.1:g.51160567C>G	GRCh37
NC_000022.9:g.49507433C>G	NCBI36
NG_008607.2:g.52785C>G
NG_070230.1:g.57923C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.3907C>G	ENSP00000489147.2:p.Gln1303Glu
ENST00000414786.7:n.4491C>G
ENST00000445220.7:c.2959C>G	ENSP00000489407.2:p.Gln987Glu
ENST00000664402.2:c.2449C>G	ENSP00000499475.1:p.Gln817Glu
ENST00000673971.2:c.*2905C>G	ENSP00000501192.1:n.*2905C>G
ENST00000445220.6:c.2959C>G	ENSP00000489407.2:p.Gln987Glu
ENST00000262795.6:c.3907C>G	ENSP00000489147.2:p.Gln1303Glu
ENST00000664402.1:c.2449C>G	ENSP00000499475.1:p.Gln817Glu
ENST00000673971.1:c.*2905C>G	ENSP00000501192.1:n.*2905C>G
ENST00000262795.5:c.4303C>G	ENSP00000489147.1:p.Gln1435Glu
ENST00000414786.6:n.4491C>G
ENST00000445220.5:c.4285C>G	ENSP00000489407.1:p.Gln1429Glu