Canonical Allele Identifier: CA515260647

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720913-C-T
• MyVariant Identifiers: chr22:g.51159341C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720913C>T , CM000684.2:g.50720913C>T	GRCh38
NC_000022.10:g.51159341C>T , CM000684.1:g.51159341C>T	GRCh37
NC_000022.9:g.49506207C>T	NCBI36
NG_008607.2:g.51559C>T
NG_070230.1:g.56697C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2681C>T	ENSP00000489147.2:p.Thr894Ile
ENST00000414786.7:n.3265C>T
ENST00000445220.7:c.1733C>T	ENSP00000489407.2:p.Thr578Ile
ENST00000664402.2:c.1223C>T	ENSP00000499475.1:p.Thr408Ile
ENST00000673971.2:c.*1679C>T	ENSP00000501192.1:n.*1679C>T
ENST00000445220.6:c.1733C>T	ENSP00000489407.2:p.Thr578Ile
ENST00000262795.6:c.2681C>T	ENSP00000489147.2:p.Thr894Ile
ENST00000664402.1:c.1223C>T	ENSP00000499475.1:p.Thr408Ile
ENST00000673971.1:c.*1679C>T	ENSP00000501192.1:n.*1679C>T
ENST00000262795.5:c.3077C>T	ENSP00000489147.1:p.Thr1026Ile
ENST00000414786.6:n.3265C>T
ENST00000445220.5:c.3059C>T	ENSP00000489407.1:p.Thr1020Ile