Canonical Allele Identifier: CA515254851

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697568-G-A
• MyVariant Identifiers: chr22:g.51135996G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697568G>A , CM000684.2:g.50697568G>A	GRCh38
NC_000022.10:g.51135996G>A , CM000684.1:g.51135996G>A	GRCh37
NC_000022.9:g.49482862G>A	NCBI36
NG_008607.2:g.28214G>A
NG_070230.1:g.33433G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.952G>A	ENSP00000489147.2:p.Ala318Thr
ENST00000414786.7:n.1536G>A
ENST00000445220.7:c.4G>A	ENSP00000489407.2:p.Ala2Thr
ENST00000673971.2:c.1309G>A	ENSP00000501192.1:p.Ala437Thr
ENST00000445220.6:c.4G>A	ENSP00000489407.2:p.Ala2Thr
ENST00000262795.6:c.952G>A	ENSP00000489147.2:p.Ala318Thr
ENST00000673971.1:c.1309G>A	ENSP00000501192.1:p.Ala437Thr
ENST00000673995.1:c.5G>A
ENST00000262795.5:c.1348G>A	ENSP00000489147.1:p.Ala450Thr
ENST00000414786.6:n.1536G>A
ENST00000445220.5:c.1330G>A	ENSP00000489407.1:p.Ala444Thr