Canonical Allele Identifier: CA515261304

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159581C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721153C>G , CM000684.2:g.50721153C>G	GRCh38
NC_000022.10:g.51159581C>G , CM000684.1:g.51159581C>G	GRCh37
NC_000022.9:g.49506447C>G	NCBI36
NG_008607.2:g.51799C>G
NG_070230.1:g.56937C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2921C>G	ENSP00000489147.2:p.Pro974Arg
ENST00000414786.7:n.3505C>G
ENST00000445220.7:c.1973C>G	ENSP00000489407.2:p.Pro658Arg
ENST00000664402.2:c.1463C>G	ENSP00000499475.1:p.Pro488Arg
ENST00000673971.2:c.*1919C>G	ENSP00000501192.1:n.*1919C>G
ENST00000445220.6:c.1973C>G	ENSP00000489407.2:p.Pro658Arg
ENST00000262795.6:c.2921C>G	ENSP00000489147.2:p.Pro974Arg
ENST00000664402.1:c.1463C>G	ENSP00000499475.1:p.Pro488Arg
ENST00000673971.1:c.*1919C>G	ENSP00000501192.1:n.*1919C>G
ENST00000262795.5:c.3317C>G	ENSP00000489147.1:p.Pro1106Arg
ENST00000414786.6:n.3505C>G
ENST00000445220.5:c.3299C>G	ENSP00000489407.1:p.Pro1100Arg