Canonical Allele Identifier: CA515255179

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697681-C-A
• MyVariant Identifiers: chr22:g.51136109C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697681C>A , CM000684.2:g.50697681C>A	GRCh38
NC_000022.10:g.51136109C>A , CM000684.1:g.51136109C>A	GRCh37
NC_000022.9:g.49482975C>A	NCBI36
NG_008607.2:g.28327C>A
NG_070230.1:g.33546C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1065C>A	ENSP00000489147.2:p.Gly355=
ENST00000414786.7:n.1649C>A
ENST00000445220.7:c.117C>A	ENSP00000489407.2:p.Gly39=
ENST00000673971.2:c.1422C>A	ENSP00000501192.1:p.Gly474=
ENST00000445220.6:c.117C>A	ENSP00000489407.2:p.Gly39=
ENST00000262795.6:c.1065C>A	ENSP00000489147.2:p.Gly355=
ENST00000673971.1:c.1422C>A	ENSP00000501192.1:p.Gly474=
ENST00000673995.1:c.118C>A
ENST00000262795.5:c.1461C>A	ENSP00000489147.1:p.Gly487=
ENST00000414786.6:n.1649C>A
ENST00000445220.5:c.1443C>A	ENSP00000489407.1:p.Gly481=