Canonical Allele Identifier: CA515260781

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159389A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720961A>G , CM000684.2:g.50720961A>G	GRCh38
NC_000022.10:g.51159389A>G , CM000684.1:g.51159389A>G	GRCh37
NC_000022.9:g.49506255A>G	NCBI36
NG_008607.2:g.51607A>G
NG_070230.1:g.56745A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2729A>G	ENSP00000489147.2:p.Asp910Gly
ENST00000414786.7:n.3313A>G
ENST00000445220.7:c.1781A>G	ENSP00000489407.2:p.Asp594Gly
ENST00000664402.2:c.1271A>G	ENSP00000499475.1:p.Asp424Gly
ENST00000673971.2:c.*1727A>G	ENSP00000501192.1:n.*1727A>G
ENST00000445220.6:c.1781A>G	ENSP00000489407.2:p.Asp594Gly
ENST00000262795.6:c.2729A>G	ENSP00000489147.2:p.Asp910Gly
ENST00000664402.1:c.1271A>G	ENSP00000499475.1:p.Asp424Gly
ENST00000673971.1:c.*1727A>G	ENSP00000501192.1:n.*1727A>G
ENST00000262795.5:c.3125A>G	ENSP00000489147.1:p.Asp1042Gly
ENST00000414786.6:n.3313A>G
ENST00000445220.5:c.3107A>G	ENSP00000489407.1:p.Asp1036Gly