Canonical Allele Identifier: CA515255012

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51136051G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697623G>C , CM000684.2:g.50697623G>C	GRCh38
NC_000022.10:g.51136051G>C , CM000684.1:g.51136051G>C	GRCh37
NC_000022.9:g.49482917G>C	NCBI36
NG_008607.2:g.28269G>C
NG_070230.1:g.33488G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1007G>C	ENSP00000489147.2:p.Ser336Thr
ENST00000414786.7:n.1591G>C
ENST00000445220.7:c.59G>C	ENSP00000489407.2:p.Ser20Thr
ENST00000673971.2:c.1364G>C	ENSP00000501192.1:p.Ser455Thr
ENST00000445220.6:c.59G>C	ENSP00000489407.2:p.Ser20Thr
ENST00000262795.6:c.1007G>C	ENSP00000489147.2:p.Ser336Thr
ENST00000673971.1:c.1364G>C	ENSP00000501192.1:p.Ser455Thr
ENST00000673995.1:c.60G>C
ENST00000262795.5:c.1403G>C	ENSP00000489147.1:p.Ser468Thr
ENST00000414786.6:n.1591G>C
ENST00000445220.5:c.1385G>C	ENSP00000489407.1:p.Ser462Thr