Canonical Allele Identifier: CA515263401

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160186C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721758C>A , CM000684.2:g.50721758C>A	GRCh38
NC_000022.10:g.51160186C>A , CM000684.1:g.51160186C>A	GRCh37
NC_000022.9:g.49507052C>A	NCBI36
NG_008607.2:g.52404C>A
NG_070230.1:g.57542C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3526C>A	ENSP00000489147.2:p.Pro1176Thr
ENST00000414786.7:n.4110C>A
ENST00000445220.7:c.2578C>A	ENSP00000489407.2:p.Pro860Thr
ENST00000664402.2:c.2068C>A	ENSP00000499475.1:p.Pro690Thr
ENST00000673971.2:c.*2524C>A	ENSP00000501192.1:n.*2524C>A
ENST00000445220.6:c.2578C>A	ENSP00000489407.2:p.Pro860Thr
ENST00000262795.6:c.3526C>A	ENSP00000489147.2:p.Pro1176Thr
ENST00000664402.1:c.2068C>A	ENSP00000499475.1:p.Pro690Thr
ENST00000673971.1:c.*2524C>A	ENSP00000501192.1:n.*2524C>A
ENST00000262795.5:c.3922C>A	ENSP00000489147.1:p.Pro1308Thr
ENST00000414786.6:n.4110C>A
ENST00000445220.5:c.3904C>A	ENSP00000489407.1:p.Pro1302Thr