Canonical Allele Identifier: CA515254984

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697613-A-G
• MyVariant Identifiers: chr22:g.51136041A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697613A>G , CM000684.2:g.50697613A>G	GRCh38
NC_000022.10:g.51136041A>G , CM000684.1:g.51136041A>G	GRCh37
NC_000022.9:g.49482907A>G	NCBI36
NG_008607.2:g.28259A>G
NG_070230.1:g.33478A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.997A>G	ENSP00000489147.2:p.Lys333Glu
ENST00000414786.7:n.1581A>G
ENST00000445220.7:c.49A>G	ENSP00000489407.2:p.Lys17Glu
ENST00000673971.2:c.1354A>G	ENSP00000501192.1:p.Lys452Glu
ENST00000445220.6:c.49A>G	ENSP00000489407.2:p.Lys17Glu
ENST00000262795.6:c.997A>G	ENSP00000489147.2:p.Lys333Glu
ENST00000673971.1:c.1354A>G	ENSP00000501192.1:p.Lys452Glu
ENST00000673995.1:c.50A>G
ENST00000262795.5:c.1393A>G	ENSP00000489147.1:p.Lys465Glu
ENST00000414786.6:n.1581A>G
ENST00000445220.5:c.1375A>G	ENSP00000489407.1:p.Lys459Glu