Canonical Allele Identifier: CA515255111

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697658-G-A
• MyVariant Identifiers: chr22:g.51136086G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697658G>A , CM000684.2:g.50697658G>A	GRCh38
NC_000022.10:g.51136086G>A , CM000684.1:g.51136086G>A	GRCh37
NC_000022.9:g.49482952G>A	NCBI36
NG_008607.2:g.28304G>A
NG_070230.1:g.33523G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1042G>A	ENSP00000489147.2:p.Ala348Thr
ENST00000414786.7:n.1626G>A
ENST00000445220.7:c.94G>A	ENSP00000489407.2:p.Ala32Thr
ENST00000673971.2:c.1399G>A	ENSP00000501192.1:p.Ala467Thr
ENST00000445220.6:c.94G>A	ENSP00000489407.2:p.Ala32Thr
ENST00000262795.6:c.1042G>A	ENSP00000489147.2:p.Ala348Thr
ENST00000673971.1:c.1399G>A	ENSP00000501192.1:p.Ala467Thr
ENST00000673995.1:c.95G>A
ENST00000262795.5:c.1438G>A	ENSP00000489147.1:p.Ala480Thr
ENST00000414786.6:n.1626G>A
ENST00000445220.5:c.1420G>A	ENSP00000489407.1:p.Ala474Thr