Canonical Allele Identifier: CA515260784

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159390T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720962T>C , CM000684.2:g.50720962T>C	GRCh38
NC_000022.10:g.51159390T>C , CM000684.1:g.51159390T>C	GRCh37
NC_000022.9:g.49506256T>C	NCBI36
NG_008607.2:g.51608T>C
NG_070230.1:g.56746T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2730T>C	ENSP00000489147.2:p.Asp910=
ENST00000414786.7:n.3314T>C
ENST00000445220.7:c.1782T>C	ENSP00000489407.2:p.Asp594=
ENST00000664402.2:c.1272T>C	ENSP00000499475.1:p.Asp424=
ENST00000673971.2:c.*1728T>C	ENSP00000501192.1:n.*1728T>C
ENST00000445220.6:c.1782T>C	ENSP00000489407.2:p.Asp594=
ENST00000262795.6:c.2730T>C	ENSP00000489147.2:p.Asp910=
ENST00000664402.1:c.1272T>C	ENSP00000499475.1:p.Asp424=
ENST00000673971.1:c.*1728T>C	ENSP00000501192.1:n.*1728T>C
ENST00000262795.5:c.3126T>C	ENSP00000489147.1:p.Asp1042=
ENST00000414786.6:n.3314T>C
ENST00000445220.5:c.3108T>C	ENSP00000489407.1:p.Asp1036=