Canonical Allele Identifier: CA515254699

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51135967G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697539G>T , CM000684.2:g.50697539G>T	GRCh38
NC_000022.10:g.51135967G>T , CM000684.1:g.51135967G>T	GRCh37
NC_000022.9:g.49482833G>T	NCBI36
NG_008607.2:g.27898G>T
NG_070230.1:g.33117G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-25G>T	ENSP00000489147.2:n.948-25G>T
ENST00000414786.7:n.1532-25G>T
ENST00000673971.2:c.1305-25G>T	ENSP00000501192.1:n.1305-25G>T
ENST00000262795.6:c.948-25G>T	ENSP00000489147.2:n.948-25G>T
ENST00000673971.1:c.1305-25G>T	ENSP00000501192.1:n.1305-25G>T
ENST00000262795.5:c.1345-26G>T	ENSP00000489147.1:n.1345-26G>T
ENST00000414786.6:n.1532-25G>T
ENST00000445220.5:c.1326-25G>T	ENSP00000489407.1:n.1326-25G>T