Canonical Allele Identifier: CA515255196

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51136114T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697686T>G , CM000684.2:g.50697686T>G	GRCh38
NC_000022.10:g.51136114T>G , CM000684.1:g.51136114T>G	GRCh37
NC_000022.9:g.49482980T>G	NCBI36
NG_008607.2:g.28332T>G
NG_070230.1:g.33551T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1070T>G	ENSP00000489147.2:p.Ile357Ser
ENST00000414786.7:n.1654T>G
ENST00000445220.7:c.122T>G	ENSP00000489407.2:p.Ile41Ser
ENST00000673971.2:c.1427T>G	ENSP00000501192.1:p.Ile476Ser
ENST00000445220.6:c.122T>G	ENSP00000489407.2:p.Ile41Ser
ENST00000262795.6:c.1070T>G	ENSP00000489147.2:p.Ile357Ser
ENST00000673971.1:c.1427T>G	ENSP00000501192.1:p.Ile476Ser
ENST00000673995.1:c.123T>G
ENST00000262795.5:c.1466T>G	ENSP00000489147.1:p.Ile489Ser
ENST00000414786.6:n.1654T>G
ENST00000445220.5:c.1448T>G	ENSP00000489407.1:p.Ile483Ser