Canonical Allele Identifier: CA515260934

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159447C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721019C>G , CM000684.2:g.50721019C>G	GRCh38
NC_000022.10:g.51159447C>G , CM000684.1:g.51159447C>G	GRCh37
NC_000022.9:g.49506313C>G	NCBI36
NG_008607.2:g.51665C>G
NG_070230.1:g.56803C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2787C>G	ENSP00000489147.2:p.Pro929=
ENST00000414786.7:n.3371C>G
ENST00000445220.7:c.1839C>G	ENSP00000489407.2:p.Pro613=
ENST00000664402.2:c.1329C>G	ENSP00000499475.1:p.Pro443=
ENST00000673971.2:c.*1785C>G	ENSP00000501192.1:n.*1785C>G
ENST00000445220.6:c.1839C>G	ENSP00000489407.2:p.Pro613=
ENST00000262795.6:c.2787C>G	ENSP00000489147.2:p.Pro929=
ENST00000664402.1:c.1329C>G	ENSP00000499475.1:p.Pro443=
ENST00000673971.1:c.*1785C>G	ENSP00000501192.1:n.*1785C>G
ENST00000262795.5:c.3183C>G	ENSP00000489147.1:p.Pro1061=
ENST00000414786.6:n.3371C>G
ENST00000445220.5:c.3165C>G	ENSP00000489407.1:p.Pro1055=