Canonical Allele Identifier: CA515264971

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50722270-G-T
• MyVariant Identifiers: chr22:g.51160698G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722270G>T , CM000684.2:g.50722270G>T	GRCh38
NC_000022.10:g.51160698G>T , CM000684.1:g.51160698G>T	GRCh37
NC_000022.9:g.49507564G>T	NCBI36
NG_008607.2:g.52916G>T
NG_070230.1:g.58054G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4038G>T	ENSP00000489147.2:p.Glu1346Asp
ENST00000414786.7:n.4622G>T
ENST00000445220.7:c.3090G>T	ENSP00000489407.2:p.Glu1030Asp
ENST00000664402.2:c.2580G>T	ENSP00000499475.1:p.Glu860Asp
ENST00000673971.2:c.*3036G>T	ENSP00000501192.1:n.*3036G>T
ENST00000445220.6:c.3090G>T	ENSP00000489407.2:p.Glu1030Asp
ENST00000262795.6:c.4038G>T	ENSP00000489147.2:p.Glu1346Asp
ENST00000664402.1:c.2580G>T	ENSP00000499475.1:p.Glu860Asp
ENST00000673971.1:c.*3036G>T	ENSP00000501192.1:n.*3036G>T
ENST00000262795.5:c.4434G>T	ENSP00000489147.1:p.Glu1478Asp
ENST00000414786.6:n.4622G>T
ENST00000445220.5:c.4416G>T	ENSP00000489407.1:p.Glu1472Asp