Canonical Allele Identifier: CA515254966

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51136035A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697607A>C , CM000684.2:g.50697607A>C	GRCh38
NC_000022.10:g.51136035A>C , CM000684.1:g.51136035A>C	GRCh37
NC_000022.9:g.49482901A>C	NCBI36
NG_008607.2:g.28253A>C
NG_070230.1:g.33472A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.991A>C	ENSP00000489147.2:p.Lys331Gln
ENST00000414786.7:n.1575A>C
ENST00000445220.7:c.43A>C	ENSP00000489407.2:p.Lys15Gln
ENST00000673971.2:c.1348A>C	ENSP00000501192.1:p.Lys450Gln
ENST00000445220.6:c.43A>C	ENSP00000489407.2:p.Lys15Gln
ENST00000262795.6:c.991A>C	ENSP00000489147.2:p.Lys331Gln
ENST00000673971.1:c.1348A>C	ENSP00000501192.1:p.Lys450Gln
ENST00000673995.1:c.44A>C
ENST00000262795.5:c.1387A>C	ENSP00000489147.1:p.Lys463Gln
ENST00000414786.6:n.1575A>C
ENST00000445220.5:c.1369A>C	ENSP00000489407.1:p.Lys457Gln