Canonical Allele Identifier: CA515254842

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51135993C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697565C>A , CM000684.2:g.50697565C>A	GRCh38
NC_000022.10:g.51135993C>A , CM000684.1:g.51135993C>A	GRCh37
NC_000022.9:g.49482859C>A	NCBI36
NG_008607.2:g.28211C>A
NG_070230.1:g.33430C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.949C>A	ENSP00000489147.2:p.Pro317Thr
ENST00000414786.7:n.1533C>A
ENST00000445220.7:c.1C>A	ENSP00000489407.2:p.Pro1Thr
ENST00000673971.2:c.1306C>A	ENSP00000501192.1:p.Pro436Thr
ENST00000445220.6:c.1C>A	ENSP00000489407.2:p.Pro1Thr
ENST00000262795.6:c.949C>A	ENSP00000489147.2:p.Pro317Thr
ENST00000673971.1:c.1306C>A	ENSP00000501192.1:p.Pro436Thr
ENST00000673995.1:c.2C>A
ENST00000262795.5:c.1345C>A	ENSP00000489147.1:p.Pro449Thr
ENST00000414786.6:n.1533C>A
ENST00000445220.5:c.1327C>A	ENSP00000489407.1:p.Pro443Thr