Canonical Allele Identifier: CA515260861

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720990-A-T
• MyVariant Identifiers: chr22:g.51159418A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720990A>T , CM000684.2:g.50720990A>T	GRCh38
NC_000022.10:g.51159418A>T , CM000684.1:g.51159418A>T	GRCh37
NC_000022.9:g.49506284A>T	NCBI36
NG_008607.2:g.51636A>T
NG_070230.1:g.56774A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2758A>T	ENSP00000489147.2:p.Ile920Phe
ENST00000414786.7:n.3342A>T
ENST00000445220.7:c.1810A>T	ENSP00000489407.2:p.Ile604Phe
ENST00000664402.2:c.1300A>T	ENSP00000499475.1:p.Ile434Phe
ENST00000673971.2:c.*1756A>T	ENSP00000501192.1:n.*1756A>T
ENST00000445220.6:c.1810A>T	ENSP00000489407.2:p.Ile604Phe
ENST00000262795.6:c.2758A>T	ENSP00000489147.2:p.Ile920Phe
ENST00000664402.1:c.1300A>T	ENSP00000499475.1:p.Ile434Phe
ENST00000673971.1:c.*1756A>T	ENSP00000501192.1:n.*1756A>T
ENST00000262795.5:c.3154A>T	ENSP00000489147.1:p.Ile1052Phe
ENST00000414786.6:n.3342A>T
ENST00000445220.5:c.3136A>T	ENSP00000489407.1:p.Ile1046Phe