Canonical Allele Identifier: CA325578736

Gene: SHANK3

Linked Data

• dbSNP Id: rs1054207376
• gnomAD v3: 22-50721195-C-T
• gnomAD v4: 22-50721195-C-T
• MyVariant Identifiers: chr22:g.51159623C>T (hg19) ; chr22:g.50721195C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2963C>T	ENSP00000489147.2:p.Ser988Phe
ENST00000414786.7:n.3547C>T
ENST00000445220.7:c.2015C>T	ENSP00000489407.2:p.Ser672Phe
ENST00000664402.2:c.1505C>T	ENSP00000499475.1:p.Ser502Phe
ENST00000673971.2:c.*1961C>T	ENSP00000501192.1:n.*1961C>T
ENST00000445220.6:c.2015C>T	ENSP00000489407.2:p.Ser672Phe
ENST00000262795.6:c.2963C>T	ENSP00000489147.2:p.Ser988Phe
ENST00000664402.1:c.1505C>T	ENSP00000499475.1:p.Ser502Phe
ENST00000673971.1:c.*1961C>T	ENSP00000501192.1:n.*1961C>T
ENST00000262795.5:c.3359C>T	ENSP00000489147.1:p.Ser1120Phe
ENST00000414786.6:n.3547C>T
ENST00000445220.5:c.3341C>T	ENSP00000489407.1:p.Ser1114Phe