Canonical Allele Identifier: CA515263978

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160367A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721939A>T , CM000684.2:g.50721939A>T	GRCh38
NC_000022.10:g.51160367A>T , CM000684.1:g.51160367A>T	GRCh37
NC_000022.9:g.49507233A>T	NCBI36
NG_008607.2:g.52585A>T
NG_070230.1:g.57723A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3707A>T	ENSP00000489147.2:p.His1236Leu
ENST00000414786.7:n.4291A>T
ENST00000445220.7:c.2759A>T	ENSP00000489407.2:p.His920Leu
ENST00000664402.2:c.2249A>T	ENSP00000499475.1:p.His750Leu
ENST00000673971.2:c.*2705A>T	ENSP00000501192.1:n.*2705A>T
ENST00000445220.6:c.2759A>T	ENSP00000489407.2:p.His920Leu
ENST00000262795.6:c.3707A>T	ENSP00000489147.2:p.His1236Leu
ENST00000664402.1:c.2249A>T	ENSP00000499475.1:p.His750Leu
ENST00000673971.1:c.*2705A>T	ENSP00000501192.1:n.*2705A>T
ENST00000262795.5:c.4103A>T	ENSP00000489147.1:p.His1368Leu
ENST00000414786.6:n.4291A>T
ENST00000445220.5:c.4085A>T	ENSP00000489407.1:p.His1362Leu