Canonical Allele Identifier: CA515259785

Gene: SHANK3

Linked Data

• dbSNP Id: rs1199273246
• gnomAD v2: 22-51159044-A-G
• gnomAD v3: 22-50720616-A-G
• gnomAD v4: 22-50720616-A-G
• MyVariant Identifiers: chr22:g.51159044A>G (hg19) ; chr22:g.50720616A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720616A>G , CM000684.2:g.50720616A>G	GRCh38
NC_000022.10:g.51159044A>G , CM000684.1:g.51159044A>G	GRCh37
NC_000022.9:g.49505910A>G	NCBI36
NG_008607.2:g.51262A>G
NG_070230.1:g.56400A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2384A>G	ENSP00000489147.2:p.Asp795Gly
ENST00000414786.7:n.2968A>G
ENST00000445220.7:c.1436A>G	ENSP00000489407.2:p.Asp479Gly
ENST00000664402.2:c.926A>G	ENSP00000499475.1:p.Asp309Gly
ENST00000673971.2:c.*1382A>G	ENSP00000501192.1:n.*1382A>G
ENST00000445220.6:c.1436A>G	ENSP00000489407.2:p.Asp479Gly
ENST00000262795.6:c.2384A>G	ENSP00000489147.2:p.Asp795Gly
ENST00000664402.1:c.926A>G	ENSP00000499475.1:p.Asp309Gly
ENST00000673971.1:c.*1382A>G	ENSP00000501192.1:n.*1382A>G
ENST00000262795.5:c.2780A>G	ENSP00000489147.1:p.Asp927Gly
ENST00000414786.6:n.2968A>G
ENST00000445220.5:c.2762A>G	ENSP00000489407.1:p.Asp921Gly