Canonical Allele Identifier: CA515266936

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50730948-C-A
• MyVariant Identifiers: chr22:g.51169376C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50730948C>A , CM000684.2:g.50730948C>A	GRCh38
NC_000022.10:g.51169376C>A , CM000684.1:g.51169376C>A	GRCh37
NC_000022.9:g.49516242C>A	NCBI36
NG_008607.2:g.61594C>A
NG_070230.1:g.66732C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4460C>A	ENSP00000489147.2:p.Ser1487Ter
ENST00000414786.7:n.5044C>A
ENST00000445220.7:c.3512C>A	ENSP00000489407.2:p.Ser1171Ter
ENST00000664402.2:c.3002C>A	ENSP00000499475.1:p.Ser1001Ter
ENST00000673971.2:c.*3458C>A	ENSP00000501192.1:n.*3458C>A
ENST00000445220.6:c.3512C>A	ENSP00000489407.2:p.Ser1171Ter
ENST00000262795.6:c.4460C>A	ENSP00000489147.2:p.Ser1487Ter
ENST00000659388.1:c.275C>A	ENSP00000499632.1:p.Ser92Ter
ENST00000664402.1:c.3002C>A	ENSP00000499475.1:p.Ser1001Ter
ENST00000673971.1:c.*3458C>A	ENSP00000501192.1:n.*3458C>A
ENST00000262795.5:c.4829C>A	ENSP00000489147.1:p.Ser1610Ter
ENST00000414786.6:n.5044C>A
ENST00000445220.5:c.4811C>A	ENSP00000489407.1:p.Ser1604Ter