Canonical Allele Identifier: CA515260938

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159448A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721020A>T , CM000684.2:g.50721020A>T	GRCh38
NC_000022.10:g.51159448A>T , CM000684.1:g.51159448A>T	GRCh37
NC_000022.9:g.49506314A>T	NCBI36
NG_008607.2:g.51666A>T
NG_070230.1:g.56804A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2788A>T	ENSP00000489147.2:p.Thr930Ser
ENST00000414786.7:n.3372A>T
ENST00000445220.7:c.1840A>T	ENSP00000489407.2:p.Thr614Ser
ENST00000664402.2:c.1330A>T	ENSP00000499475.1:p.Thr444Ser
ENST00000673971.2:c.*1786A>T	ENSP00000501192.1:n.*1786A>T
ENST00000445220.6:c.1840A>T	ENSP00000489407.2:p.Thr614Ser
ENST00000262795.6:c.2788A>T	ENSP00000489147.2:p.Thr930Ser
ENST00000664402.1:c.1330A>T	ENSP00000499475.1:p.Thr444Ser
ENST00000673971.1:c.*1786A>T	ENSP00000501192.1:n.*1786A>T
ENST00000262795.5:c.3184A>T	ENSP00000489147.1:p.Thr1062Ser
ENST00000414786.6:n.3372A>T
ENST00000445220.5:c.3166A>T	ENSP00000489407.1:p.Thr1056Ser