Canonical Allele Identifier: CA515261000

Gene: SHANK3

Linked Data

• dbSNP Id: rs1474633474
• gnomAD v2: 22-51159470-T-C
• gnomAD v4: 22-50721042-T-C
• MyVariant Identifiers: chr22:g.51159470T>C (hg19) ; chr22:g.50721042T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721042T>C , CM000684.2:g.50721042T>C	GRCh38
NC_000022.10:g.51159470T>C , CM000684.1:g.51159470T>C	GRCh37
NC_000022.9:g.49506336T>C	NCBI36
NG_008607.2:g.51688T>C
NG_070230.1:g.56826T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2810T>C	ENSP00000489147.2:p.Leu937Pro
ENST00000414786.7:n.3394T>C
ENST00000445220.7:c.1862T>C	ENSP00000489407.2:p.Leu621Pro
ENST00000664402.2:c.1352T>C	ENSP00000499475.1:p.Leu451Pro
ENST00000673971.2:c.*1808T>C	ENSP00000501192.1:n.*1808T>C
ENST00000445220.6:c.1862T>C	ENSP00000489407.2:p.Leu621Pro
ENST00000262795.6:c.2810T>C	ENSP00000489147.2:p.Leu937Pro
ENST00000664402.1:c.1352T>C	ENSP00000499475.1:p.Leu451Pro
ENST00000673971.1:c.*1808T>C	ENSP00000501192.1:n.*1808T>C
ENST00000262795.5:c.3206T>C	ENSP00000489147.1:p.Leu1069Pro
ENST00000414786.6:n.3394T>C
ENST00000445220.5:c.3188T>C	ENSP00000489407.1:p.Leu1063Pro