Canonical Allele Identifier: CA515255058

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697639-C-G
• MyVariant Identifiers: chr22:g.51136067C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697639C>G , CM000684.2:g.50697639C>G	GRCh38
NC_000022.10:g.51136067C>G , CM000684.1:g.51136067C>G	GRCh37
NC_000022.9:g.49482933C>G	NCBI36
NG_008607.2:g.28285C>G
NG_070230.1:g.33504C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1023C>G	ENSP00000489147.2:p.Arg341=
ENST00000414786.7:n.1607C>G
ENST00000445220.7:c.75C>G	ENSP00000489407.2:p.Arg25=
ENST00000673971.2:c.1380C>G	ENSP00000501192.1:p.Arg460=
ENST00000445220.6:c.75C>G	ENSP00000489407.2:p.Arg25=
ENST00000262795.6:c.1023C>G	ENSP00000489147.2:p.Arg341=
ENST00000673971.1:c.1380C>G	ENSP00000501192.1:p.Arg460=
ENST00000673995.1:c.76C>G
ENST00000262795.5:c.1419C>G	ENSP00000489147.1:p.Arg473=
ENST00000414786.6:n.1607C>G
ENST00000445220.5:c.1401C>G	ENSP00000489407.1:p.Arg467=