Canonical Allele Identifier: CA515263694

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160280A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721852A>C , CM000684.2:g.50721852A>C	GRCh38
NC_000022.10:g.51160280A>C , CM000684.1:g.51160280A>C	GRCh37
NC_000022.9:g.49507146A>C	NCBI36
NG_008607.2:g.52498A>C
NG_070230.1:g.57636A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3620A>C	ENSP00000489147.2:p.Lys1207Thr
ENST00000414786.7:n.4204A>C
ENST00000445220.7:c.2672A>C	ENSP00000489407.2:p.Lys891Thr
ENST00000664402.2:c.2162A>C	ENSP00000499475.1:p.Lys721Thr
ENST00000673971.2:c.*2618A>C	ENSP00000501192.1:n.*2618A>C
ENST00000445220.6:c.2672A>C	ENSP00000489407.2:p.Lys891Thr
ENST00000262795.6:c.3620A>C	ENSP00000489147.2:p.Lys1207Thr
ENST00000664402.1:c.2162A>C	ENSP00000499475.1:p.Lys721Thr
ENST00000673971.1:c.*2618A>C	ENSP00000501192.1:n.*2618A>C
ENST00000262795.5:c.4016A>C	ENSP00000489147.1:p.Lys1339Thr
ENST00000414786.6:n.4204A>C
ENST00000445220.5:c.3998A>C	ENSP00000489407.1:p.Lys1333Thr