Canonical Allele Identifier: CA325553894

Gene: SHANK3

Linked Data

• dbSNP Id: rs914194027
• gnomAD v2: 22-51136019-G-A
• gnomAD v3: 22-50697591-G-A
• gnomAD v4: 22-50697591-G-A
• MyVariant Identifiers: chr22:g.51136019G>A (hg19) ; chr22:g.50697591G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697591G>A , CM000684.2:g.50697591G>A	GRCh38
NC_000022.10:g.51136019G>A , CM000684.1:g.51136019G>A	GRCh37
NC_000022.9:g.49482885G>A	NCBI36
NG_008607.2:g.28237G>A
NG_070230.1:g.33456G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.975G>A	ENSP00000489147.2:p.Pro325=
ENST00000414786.7:n.1559G>A
ENST00000445220.7:c.27G>A	ENSP00000489407.2:p.Pro9=
ENST00000673971.2:c.1332G>A	ENSP00000501192.1:p.Pro444=
ENST00000445220.6:c.27G>A	ENSP00000489407.2:p.Pro9=
ENST00000262795.6:c.975G>A	ENSP00000489147.2:p.Pro325=
ENST00000673971.1:c.1332G>A	ENSP00000501192.1:p.Pro444=
ENST00000673995.1:c.28G>A
ENST00000262795.5:c.1371G>A	ENSP00000489147.1:p.Pro457=
ENST00000414786.6:n.1559G>A
ENST00000445220.5:c.1353G>A	ENSP00000489407.1:p.Pro451=