Canonical Allele Identifier: CA515260920

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721012-C-T
• MyVariant Identifiers: chr22:g.51159440C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721012C>T , CM000684.2:g.50721012C>T	GRCh38
NC_000022.10:g.51159440C>T , CM000684.1:g.51159440C>T	GRCh37
NC_000022.9:g.49506306C>T	NCBI36
NG_008607.2:g.51658C>T
NG_070230.1:g.56796C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2780C>T	ENSP00000489147.2:p.Thr927Ile
ENST00000414786.7:n.3364C>T
ENST00000445220.7:c.1832C>T	ENSP00000489407.2:p.Thr611Ile
ENST00000664402.2:c.1322C>T	ENSP00000499475.1:p.Thr441Ile
ENST00000673971.2:c.*1778C>T	ENSP00000501192.1:n.*1778C>T
ENST00000445220.6:c.1832C>T	ENSP00000489407.2:p.Thr611Ile
ENST00000262795.6:c.2780C>T	ENSP00000489147.2:p.Thr927Ile
ENST00000664402.1:c.1322C>T	ENSP00000499475.1:p.Thr441Ile
ENST00000673971.1:c.*1778C>T	ENSP00000501192.1:n.*1778C>T
ENST00000262795.5:c.3176C>T	ENSP00000489147.1:p.Thr1059Ile
ENST00000414786.6:n.3364C>T
ENST00000445220.5:c.3158C>T	ENSP00000489407.1:p.Thr1053Ile