Canonical Allele Identifier: CA515264339

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160496T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722068T>C , CM000684.2:g.50722068T>C	GRCh38
NC_000022.10:g.51160496T>C , CM000684.1:g.51160496T>C	GRCh37
NC_000022.9:g.49507362T>C	NCBI36
NG_008607.2:g.52714T>C
NG_070230.1:g.57852T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3836T>C	ENSP00000489147.2:p.Val1279Ala
ENST00000414786.7:n.4420T>C
ENST00000445220.7:c.2888T>C	ENSP00000489407.2:p.Val963Ala
ENST00000664402.2:c.2378T>C	ENSP00000499475.1:p.Val793Ala
ENST00000673971.2:c.*2834T>C	ENSP00000501192.1:n.*2834T>C
ENST00000445220.6:c.2888T>C	ENSP00000489407.2:p.Val963Ala
ENST00000262795.6:c.3836T>C	ENSP00000489147.2:p.Val1279Ala
ENST00000664402.1:c.2378T>C	ENSP00000499475.1:p.Val793Ala
ENST00000673971.1:c.*2834T>C	ENSP00000501192.1:n.*2834T>C
ENST00000262795.5:c.4232T>C	ENSP00000489147.1:p.Val1411Ala
ENST00000414786.6:n.4420T>C
ENST00000445220.5:c.4214T>C	ENSP00000489407.1:p.Val1405Ala