Canonical Allele Identifier: CA515259005

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720348-T-A
• MyVariant Identifiers: chr22:g.51158776T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720348T>A , CM000684.2:g.50720348T>A	GRCh38
NC_000022.10:g.51158776T>A , CM000684.1:g.51158776T>A	GRCh37
NC_000022.9:g.49505642T>A	NCBI36
NG_008607.2:g.50994T>A
NG_070230.1:g.56132T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2116T>A	ENSP00000489147.2:p.Ser706Thr
ENST00000414786.7:n.2700T>A
ENST00000445220.7:c.1168T>A	ENSP00000489407.2:p.Ser390Thr
ENST00000664402.2:c.658T>A	ENSP00000499475.1:p.Ser220Thr
ENST00000673971.2:c.*1114T>A	ENSP00000501192.1:n.*1114T>A
ENST00000445220.6:c.1168T>A	ENSP00000489407.2:p.Ser390Thr
ENST00000262795.6:c.2116T>A	ENSP00000489147.2:p.Ser706Thr
ENST00000664402.1:c.658T>A	ENSP00000499475.1:p.Ser220Thr
ENST00000673971.1:c.*1114T>A	ENSP00000501192.1:n.*1114T>A
ENST00000262795.5:c.2512T>A	ENSP00000489147.1:p.Ser838Thr
ENST00000414786.6:n.2700T>A
ENST00000445220.5:c.2494T>A	ENSP00000489407.1:p.Ser832Thr