Canonical Allele Identifier: CA515258774

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720274-C-T
• MyVariant Identifiers: chr22:g.51158702C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720274C>T , CM000684.2:g.50720274C>T	GRCh38
NC_000022.10:g.51158702C>T , CM000684.1:g.51158702C>T	GRCh37
NC_000022.9:g.49505568C>T	NCBI36
NG_008607.2:g.50920C>T
NG_070230.1:g.56058C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2042C>T	ENSP00000489147.2:p.Pro681Leu
ENST00000414786.7:n.2626C>T
ENST00000445220.7:c.1094C>T	ENSP00000489407.2:p.Pro365Leu
ENST00000664402.2:c.584C>T	ENSP00000499475.1:p.Pro195Leu
ENST00000673971.2:c.*1040C>T	ENSP00000501192.1:n.*1040C>T
ENST00000445220.6:c.1094C>T	ENSP00000489407.2:p.Pro365Leu
ENST00000262795.6:c.2042C>T	ENSP00000489147.2:p.Pro681Leu
ENST00000664402.1:c.584C>T	ENSP00000499475.1:p.Pro195Leu
ENST00000673971.1:c.*1040C>T	ENSP00000501192.1:n.*1040C>T
ENST00000262795.5:c.2438C>T	ENSP00000489147.1:p.Pro813Leu
ENST00000414786.6:n.2626C>T
ENST00000445220.5:c.2420C>T	ENSP00000489407.1:p.Pro807Leu