Canonical Allele Identifier: CA515254877

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697576-T-A
• gnomAD v4: 22-50697576-T-A
• MyVariant Identifiers: chr22:g.51136004T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697576T>A , CM000684.2:g.50697576T>A	GRCh38
NC_000022.10:g.51136004T>A , CM000684.1:g.51136004T>A	GRCh37
NC_000022.9:g.49482870T>A	NCBI36
NG_008607.2:g.28222T>A
NG_070230.1:g.33441T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.960T>A	ENSP00000489147.2:p.Pro320=
ENST00000414786.7:n.1544T>A
ENST00000445220.7:c.12T>A	ENSP00000489407.2:p.Pro4=
ENST00000673971.2:c.1317T>A	ENSP00000501192.1:p.Pro439=
ENST00000445220.6:c.12T>A	ENSP00000489407.2:p.Pro4=
ENST00000262795.6:c.960T>A	ENSP00000489147.2:p.Pro320=
ENST00000673971.1:c.1317T>A	ENSP00000501192.1:p.Pro439=
ENST00000673995.1:c.13T>A
ENST00000262795.5:c.1356T>A	ENSP00000489147.1:p.Pro452=
ENST00000414786.6:n.1544T>A
ENST00000445220.5:c.1338T>A	ENSP00000489407.1:p.Pro446=