Canonical Allele Identifier: CA515255078

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697646-A-T
• MyVariant Identifiers: chr22:g.51136074A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697646A>T , CM000684.2:g.50697646A>T	GRCh38
NC_000022.10:g.51136074A>T , CM000684.1:g.51136074A>T	GRCh37
NC_000022.9:g.49482940A>T	NCBI36
NG_008607.2:g.28292A>T
NG_070230.1:g.33511A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1030A>T	ENSP00000489147.2:p.Ile344Phe
ENST00000414786.7:n.1614A>T
ENST00000445220.7:c.82A>T	ENSP00000489407.2:p.Ile28Phe
ENST00000673971.2:c.1387A>T	ENSP00000501192.1:p.Ile463Phe
ENST00000445220.6:c.82A>T	ENSP00000489407.2:p.Ile28Phe
ENST00000262795.6:c.1030A>T	ENSP00000489147.2:p.Ile344Phe
ENST00000673971.1:c.1387A>T	ENSP00000501192.1:p.Ile463Phe
ENST00000673995.1:c.83A>T
ENST00000262795.5:c.1426A>T	ENSP00000489147.1:p.Ile476Phe
ENST00000414786.6:n.1614A>T
ENST00000445220.5:c.1408A>T	ENSP00000489407.1:p.Ile470Phe