Canonical Allele Identifier: CA515261160

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159530G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721102G>A , CM000684.2:g.50721102G>A	GRCh38
NC_000022.10:g.51159530G>A , CM000684.1:g.51159530G>A	GRCh37
NC_000022.9:g.49506396G>A	NCBI36
NG_008607.2:g.51748G>A
NG_070230.1:g.56886G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2870G>A	ENSP00000489147.2:p.Gly957Asp
ENST00000414786.7:n.3454G>A
ENST00000445220.7:c.1922G>A	ENSP00000489407.2:p.Gly641Asp
ENST00000664402.2:c.1412G>A	ENSP00000499475.1:p.Gly471Asp
ENST00000673971.2:c.*1868G>A	ENSP00000501192.1:n.*1868G>A
ENST00000445220.6:c.1922G>A	ENSP00000489407.2:p.Gly641Asp
ENST00000262795.6:c.2870G>A	ENSP00000489147.2:p.Gly957Asp
ENST00000664402.1:c.1412G>A	ENSP00000499475.1:p.Gly471Asp
ENST00000673971.1:c.*1868G>A	ENSP00000501192.1:n.*1868G>A
ENST00000262795.5:c.3266G>A	ENSP00000489147.1:p.Gly1089Asp
ENST00000414786.6:n.3454G>A
ENST00000445220.5:c.3248G>A	ENSP00000489407.1:p.Gly1083Asp