Canonical Allele Identifier: CA515261419

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721195-C-A
• MyVariant Identifiers: chr22:g.51159623C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721195C>A , CM000684.2:g.50721195C>A	GRCh38
NC_000022.10:g.51159623C>A , CM000684.1:g.51159623C>A	GRCh37
NC_000022.9:g.49506489C>A	NCBI36
NG_008607.2:g.51841C>A
NG_070230.1:g.56979C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2963C>A	ENSP00000489147.2:p.Ser988Tyr
ENST00000414786.7:n.3547C>A
ENST00000445220.7:c.2015C>A	ENSP00000489407.2:p.Ser672Tyr
ENST00000664402.2:c.1505C>A	ENSP00000499475.1:p.Ser502Tyr
ENST00000673971.2:c.*1961C>A	ENSP00000501192.1:n.*1961C>A
ENST00000445220.6:c.2015C>A	ENSP00000489407.2:p.Ser672Tyr
ENST00000262795.6:c.2963C>A	ENSP00000489147.2:p.Ser988Tyr
ENST00000664402.1:c.1505C>A	ENSP00000499475.1:p.Ser502Tyr
ENST00000673971.1:c.*1961C>A	ENSP00000501192.1:n.*1961C>A
ENST00000262795.5:c.3359C>A	ENSP00000489147.1:p.Ser1120Tyr
ENST00000414786.6:n.3547C>A
ENST00000445220.5:c.3341C>A	ENSP00000489407.1:p.Ser1114Tyr