Canonical Allele Identifier: CA515255103

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697655-A-G
• MyVariant Identifiers: chr22:g.51136083A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697655A>G , CM000684.2:g.50697655A>G	GRCh38
NC_000022.10:g.51136083A>G , CM000684.1:g.51136083A>G	GRCh37
NC_000022.9:g.49482949A>G	NCBI36
NG_008607.2:g.28301A>G
NG_070230.1:g.33520A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1039A>G	ENSP00000489147.2:p.Lys347Glu
ENST00000414786.7:n.1623A>G
ENST00000445220.7:c.91A>G	ENSP00000489407.2:p.Lys31Glu
ENST00000673971.2:c.1396A>G	ENSP00000501192.1:p.Lys466Glu
ENST00000445220.6:c.91A>G	ENSP00000489407.2:p.Lys31Glu
ENST00000262795.6:c.1039A>G	ENSP00000489147.2:p.Lys347Glu
ENST00000673971.1:c.1396A>G	ENSP00000501192.1:p.Lys466Glu
ENST00000673995.1:c.92A>G
ENST00000262795.5:c.1435A>G	ENSP00000489147.1:p.Lys479Glu
ENST00000414786.6:n.1623A>G
ENST00000445220.5:c.1417A>G	ENSP00000489407.1:p.Lys473Glu