Canonical Allele Identifier: CA515260919

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159440C>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2780C>A	ENSP00000489147.2:p.Thr927Asn
ENST00000414786.7:n.3364C>A
ENST00000445220.7:c.1832C>A	ENSP00000489407.2:p.Thr611Asn
ENST00000664402.2:c.1322C>A	ENSP00000499475.1:p.Thr441Asn
ENST00000673971.2:c.*1778C>A	ENSP00000501192.1:n.*1778C>A
ENST00000445220.6:c.1832C>A	ENSP00000489407.2:p.Thr611Asn
ENST00000262795.6:c.2780C>A	ENSP00000489147.2:p.Thr927Asn
ENST00000664402.1:c.1322C>A	ENSP00000499475.1:p.Thr441Asn
ENST00000673971.1:c.*1778C>A	ENSP00000501192.1:n.*1778C>A
ENST00000262795.5:c.3176C>A	ENSP00000489147.1:p.Thr1059Asn
ENST00000414786.6:n.3364C>A
ENST00000445220.5:c.3158C>A	ENSP00000489407.1:p.Thr1053Asn