Canonical Allele Identifier: CA515261839

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159757C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721329C>G , CM000684.2:g.50721329C>G	GRCh38
NC_000022.10:g.51159757C>G , CM000684.1:g.51159757C>G	GRCh37
NC_000022.9:g.49506623C>G	NCBI36
NG_008607.2:g.51975C>G
NG_070230.1:g.57113C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3097C>G	ENSP00000489147.2:p.Pro1033Ala
ENST00000414786.7:n.3681C>G
ENST00000445220.7:c.2149C>G	ENSP00000489407.2:p.Pro717Ala
ENST00000664402.2:c.1639C>G	ENSP00000499475.1:p.Pro547Ala
ENST00000673971.2:c.*2095C>G	ENSP00000501192.1:n.*2095C>G
ENST00000445220.6:c.2149C>G	ENSP00000489407.2:p.Pro717Ala
ENST00000262795.6:c.3097C>G	ENSP00000489147.2:p.Pro1033Ala
ENST00000664402.1:c.1639C>G	ENSP00000499475.1:p.Pro547Ala
ENST00000673971.1:c.*2095C>G	ENSP00000501192.1:n.*2095C>G
ENST00000262795.5:c.3493C>G	ENSP00000489147.1:p.Pro1165Ala
ENST00000414786.6:n.3681C>G
ENST00000445220.5:c.3475C>G	ENSP00000489407.1:p.Pro1159Ala