Canonical Allele Identifier: CA515261209

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159547C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721119C>G , CM000684.2:g.50721119C>G	GRCh38
NC_000022.10:g.51159547C>G , CM000684.1:g.51159547C>G	GRCh37
NC_000022.9:g.49506413C>G	NCBI36
NG_008607.2:g.51765C>G
NG_070230.1:g.56903C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2887C>G	ENSP00000489147.2:p.Pro963Ala
ENST00000414786.7:n.3471C>G
ENST00000445220.7:c.1939C>G	ENSP00000489407.2:p.Pro647Ala
ENST00000664402.2:c.1429C>G	ENSP00000499475.1:p.Pro477Ala
ENST00000673971.2:c.*1885C>G	ENSP00000501192.1:n.*1885C>G
ENST00000445220.6:c.1939C>G	ENSP00000489407.2:p.Pro647Ala
ENST00000262795.6:c.2887C>G	ENSP00000489147.2:p.Pro963Ala
ENST00000664402.1:c.1429C>G	ENSP00000499475.1:p.Pro477Ala
ENST00000673971.1:c.*1885C>G	ENSP00000501192.1:n.*1885C>G
ENST00000262795.5:c.3283C>G	ENSP00000489147.1:p.Pro1095Ala
ENST00000414786.6:n.3471C>G
ENST00000445220.5:c.3265C>G	ENSP00000489407.1:p.Pro1089Ala