Canonical Allele Identifier: CA10325937

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 252769
• ClinVar RCV Id: RCV000239320 ; RCV000765658 ; RCV001711795 ; RCV002313967
• dbSNP Id: rs530255181
• ExAC: 22:51159169 G / T
• gnomAD v2: 22-51159169-G-T
• gnomAD v3: 22-50720741-G-T
• gnomAD v4: 22-50720741-G-T
• MyVariant Identifiers: chr22:g.51159169G>T (hg19) ; chr22:g.50720741G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720741G>T , CM000684.2:g.50720741G>T	GRCh38
NC_000022.10:g.51159169G>T , CM000684.1:g.51159169G>T	GRCh37
NC_000022.9:g.49506035G>T	NCBI36
NG_008607.2:g.51387G>T
NG_070230.1:g.56525G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2509G>T	ENSP00000489147.2:p.Ala837Ser
ENST00000414786.7:n.3093G>T
ENST00000445220.7:c.1561G>T	ENSP00000489407.2:p.Ala521Ser
ENST00000664402.2:c.1051G>T	ENSP00000499475.1:p.Ala351Ser
ENST00000673971.2:c.*1507G>T	ENSP00000501192.1:n.*1507G>T
ENST00000445220.6:c.1561G>T	ENSP00000489407.2:p.Ala521Ser
ENST00000262795.6:c.2509G>T	ENSP00000489147.2:p.Ala837Ser
ENST00000664402.1:c.1051G>T	ENSP00000499475.1:p.Ala351Ser
ENST00000673971.1:c.*1507G>T	ENSP00000501192.1:n.*1507G>T
ENST00000262795.5:c.2905G>T	ENSP00000489147.1:p.Ala969Ser
ENST00000414786.6:n.3093G>T
ENST00000445220.5:c.2887G>T	ENSP00000489407.1:p.Ala963Ser