Canonical Allele Identifier: CA515255098

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51136081T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697653T>G , CM000684.2:g.50697653T>G	GRCh38
NC_000022.10:g.51136081T>G , CM000684.1:g.51136081T>G	GRCh37
NC_000022.9:g.49482947T>G	NCBI36
NG_008607.2:g.28299T>G
NG_070230.1:g.33518T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1037T>G	ENSP00000489147.2:p.Val346Gly
ENST00000414786.7:n.1621T>G
ENST00000445220.7:c.89T>G	ENSP00000489407.2:p.Val30Gly
ENST00000673971.2:c.1394T>G	ENSP00000501192.1:p.Val465Gly
ENST00000445220.6:c.89T>G	ENSP00000489407.2:p.Val30Gly
ENST00000262795.6:c.1037T>G	ENSP00000489147.2:p.Val346Gly
ENST00000673971.1:c.1394T>G	ENSP00000501192.1:p.Val465Gly
ENST00000673995.1:c.90T>G
ENST00000262795.5:c.1433T>G	ENSP00000489147.1:p.Val478Gly
ENST00000414786.6:n.1621T>G
ENST00000445220.5:c.1415T>G	ENSP00000489407.1:p.Val472Gly