Canonical Allele Identifier: CA515259276

Gene: SHANK3

Linked Data

• dbSNP Id: rs113785055
• gnomAD v4: 22-50720441-C-A
• MyVariant Identifiers: chr22:g.51158869C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720441C>A , CM000684.2:g.50720441C>A	GRCh38
NC_000022.10:g.51158869C>A , CM000684.1:g.51158869C>A	GRCh37
NC_000022.9:g.49505735C>A	NCBI36
NG_008607.2:g.51087C>A
NG_070230.1:g.56225C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2209C>A	ENSP00000489147.2:p.Leu737Met
ENST00000414786.7:n.2793C>A
ENST00000445220.7:c.1261C>A	ENSP00000489407.2:p.Leu421Met
ENST00000664402.2:c.751C>A	ENSP00000499475.1:p.Leu251Met
ENST00000673971.2:c.*1207C>A	ENSP00000501192.1:n.*1207C>A
ENST00000445220.6:c.1261C>A	ENSP00000489407.2:p.Leu421Met
ENST00000262795.6:c.2209C>A	ENSP00000489147.2:p.Leu737Met
ENST00000664402.1:c.751C>A	ENSP00000499475.1:p.Leu251Met
ENST00000673971.1:c.*1207C>A	ENSP00000501192.1:n.*1207C>A
ENST00000262795.5:c.2605C>A	ENSP00000489147.1:p.Leu869Met
ENST00000414786.6:n.2793C>A
ENST00000445220.5:c.2587C>A	ENSP00000489407.1:p.Leu863Met