Canonical Allele Identifier: CA515260815

Gene: SHANK3

Linked Data

• dbSNP Id: rs1374907171
• gnomAD v2: 22-51159401-T-C
• gnomAD v4: 22-50720973-T-C
• MyVariant Identifiers: chr22:g.51159401T>C (hg19) ; chr22:g.50720973T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720973T>C , CM000684.2:g.50720973T>C	GRCh38
NC_000022.10:g.51159401T>C , CM000684.1:g.51159401T>C	GRCh37
NC_000022.9:g.49506267T>C	NCBI36
NG_008607.2:g.51619T>C
NG_070230.1:g.56757T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2741T>C	ENSP00000489147.2:p.Leu914Pro
ENST00000414786.7:n.3325T>C
ENST00000445220.7:c.1793T>C	ENSP00000489407.2:p.Leu598Pro
ENST00000664402.2:c.1283T>C	ENSP00000499475.1:p.Leu428Pro
ENST00000673971.2:c.*1739T>C	ENSP00000501192.1:n.*1739T>C
ENST00000445220.6:c.1793T>C	ENSP00000489407.2:p.Leu598Pro
ENST00000262795.6:c.2741T>C	ENSP00000489147.2:p.Leu914Pro
ENST00000664402.1:c.1283T>C	ENSP00000499475.1:p.Leu428Pro
ENST00000673971.1:c.*1739T>C	ENSP00000501192.1:n.*1739T>C
ENST00000262795.5:c.3137T>C	ENSP00000489147.1:p.Leu1046Pro
ENST00000414786.6:n.3325T>C
ENST00000445220.5:c.3119T>C	ENSP00000489407.1:p.Leu1040Pro