Canonical Allele Identifier: CA515260855

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083281163
• gnomAD v3: 22-50720987-T-C
• gnomAD v4: 22-50720987-T-C
• MyVariant Identifiers: chr22:g.51159415T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720987T>C , CM000684.2:g.50720987T>C	GRCh38
NC_000022.10:g.51159415T>C , CM000684.1:g.51159415T>C	GRCh37
NC_000022.9:g.49506281T>C	NCBI36
NG_008607.2:g.51633T>C
NG_070230.1:g.56771T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2755T>C	ENSP00000489147.2:p.Ser919Pro
ENST00000414786.7:n.3339T>C
ENST00000445220.7:c.1807T>C	ENSP00000489407.2:p.Ser603Pro
ENST00000664402.2:c.1297T>C	ENSP00000499475.1:p.Ser433Pro
ENST00000673971.2:c.*1753T>C	ENSP00000501192.1:n.*1753T>C
ENST00000445220.6:c.1807T>C	ENSP00000489407.2:p.Ser603Pro
ENST00000262795.6:c.2755T>C	ENSP00000489147.2:p.Ser919Pro
ENST00000664402.1:c.1297T>C	ENSP00000499475.1:p.Ser433Pro
ENST00000673971.1:c.*1753T>C	ENSP00000501192.1:n.*1753T>C
ENST00000262795.5:c.3151T>C	ENSP00000489147.1:p.Ser1051Pro
ENST00000414786.6:n.3339T>C
ENST00000445220.5:c.3133T>C	ENSP00000489407.1:p.Ser1045Pro