Canonical Allele Identifier: CA515260693

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159357G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720929G>C , CM000684.2:g.50720929G>C	GRCh38
NC_000022.10:g.51159357G>C , CM000684.1:g.51159357G>C	GRCh37
NC_000022.9:g.49506223G>C	NCBI36
NG_008607.2:g.51575G>C
NG_070230.1:g.56713G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2697G>C	ENSP00000489147.2:p.Val899=
ENST00000414786.7:n.3281G>C
ENST00000445220.7:c.1749G>C	ENSP00000489407.2:p.Val583=
ENST00000664402.2:c.1239G>C	ENSP00000499475.1:p.Val413=
ENST00000673971.2:c.*1695G>C	ENSP00000501192.1:n.*1695G>C
ENST00000445220.6:c.1749G>C	ENSP00000489407.2:p.Val583=
ENST00000262795.6:c.2697G>C	ENSP00000489147.2:p.Val899=
ENST00000664402.1:c.1239G>C	ENSP00000499475.1:p.Val413=
ENST00000673971.1:c.*1695G>C	ENSP00000501192.1:n.*1695G>C
ENST00000262795.5:c.3093G>C	ENSP00000489147.1:p.Val1031=
ENST00000414786.6:n.3281G>C
ENST00000445220.5:c.3075G>C	ENSP00000489407.1:p.Val1025=