Canonical Allele Identifier: CA515266909

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50730939-T-A
• MyVariant Identifiers: chr22:g.51169367T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50730939T>A , CM000684.2:g.50730939T>A	GRCh38
NC_000022.10:g.51169367T>A , CM000684.1:g.51169367T>A	GRCh37
NC_000022.9:g.49516233T>A	NCBI36
NG_008607.2:g.61585T>A
NG_070230.1:g.66723T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4451T>A	ENSP00000489147.2:p.Ile1484Asn
ENST00000414786.7:n.5035T>A
ENST00000445220.7:c.3503T>A	ENSP00000489407.2:p.Ile1168Asn
ENST00000664402.2:c.2993T>A	ENSP00000499475.1:p.Ile998Asn
ENST00000673971.2:c.*3449T>A	ENSP00000501192.1:n.*3449T>A
ENST00000445220.6:c.3503T>A	ENSP00000489407.2:p.Ile1168Asn
ENST00000262795.6:c.4451T>A	ENSP00000489147.2:p.Ile1484Asn
ENST00000659388.1:c.266T>A	ENSP00000499632.1:p.Ile89Asn
ENST00000664402.1:c.2993T>A	ENSP00000499475.1:p.Ile998Asn
ENST00000673971.1:c.*3449T>A	ENSP00000501192.1:n.*3449T>A
ENST00000262795.5:c.4820T>A	ENSP00000489147.1:p.Ile1607Asn
ENST00000414786.6:n.5035T>A
ENST00000445220.5:c.4802T>A	ENSP00000489407.1:p.Ile1601Asn