Canonical Allele Identifier: CA515263472

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721782-G-T
• MyVariant Identifiers: chr22:g.51160210G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721782G>T , CM000684.2:g.50721782G>T	GRCh38
NC_000022.10:g.51160210G>T , CM000684.1:g.51160210G>T	GRCh37
NC_000022.9:g.49507076G>T	NCBI36
NG_008607.2:g.52428G>T
NG_070230.1:g.57566G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3550G>T	ENSP00000489147.2:p.Val1184Phe
ENST00000414786.7:n.4134G>T
ENST00000445220.7:c.2602G>T	ENSP00000489407.2:p.Val868Phe
ENST00000664402.2:c.2092G>T	ENSP00000499475.1:p.Val698Phe
ENST00000673971.2:c.*2548G>T	ENSP00000501192.1:n.*2548G>T
ENST00000445220.6:c.2602G>T	ENSP00000489407.2:p.Val868Phe
ENST00000262795.6:c.3550G>T	ENSP00000489147.2:p.Val1184Phe
ENST00000664402.1:c.2092G>T	ENSP00000499475.1:p.Val698Phe
ENST00000673971.1:c.*2548G>T	ENSP00000501192.1:n.*2548G>T
ENST00000262795.5:c.3946G>T	ENSP00000489147.1:p.Val1316Phe
ENST00000414786.6:n.4134G>T
ENST00000445220.5:c.3928G>T	ENSP00000489407.1:p.Val1310Phe