Canonical Allele Identifier: CA515259690

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720583-G-T
• MyVariant Identifiers: chr22:g.51159011G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720583G>T , CM000684.2:g.50720583G>T	GRCh38
NC_000022.10:g.51159011G>T , CM000684.1:g.51159011G>T	GRCh37
NC_000022.9:g.49505877G>T	NCBI36
NG_008607.2:g.51229G>T
NG_070230.1:g.56367G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2351G>T	ENSP00000489147.2:p.Arg784Leu
ENST00000414786.7:n.2935G>T
ENST00000445220.7:c.1403G>T	ENSP00000489407.2:p.Arg468Leu
ENST00000664402.2:c.893G>T	ENSP00000499475.1:p.Arg298Leu
ENST00000673971.2:c.*1349G>T	ENSP00000501192.1:n.*1349G>T
ENST00000445220.6:c.1403G>T	ENSP00000489407.2:p.Arg468Leu
ENST00000262795.6:c.2351G>T	ENSP00000489147.2:p.Arg784Leu
ENST00000664402.1:c.893G>T	ENSP00000499475.1:p.Arg298Leu
ENST00000673971.1:c.*1349G>T	ENSP00000501192.1:n.*1349G>T
ENST00000262795.5:c.2747G>T	ENSP00000489147.1:p.Arg916Leu
ENST00000414786.6:n.2935G>T
ENST00000445220.5:c.2729G>T	ENSP00000489407.1:p.Arg910Leu