Canonical Allele Identifier: CA515263002

Gene: SHANK3

Linked Data

• dbSNP Id: rs1453634697
• gnomAD v2: 22-51160038-T-C
• MyVariant Identifiers: chr22:g.51160038T>C (hg19) ; chr22:g.50721610T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721610T>C , CM000684.2:g.50721610T>C	GRCh38
NC_000022.10:g.51160038T>C , CM000684.1:g.51160038T>C	GRCh37
NC_000022.9:g.49506904T>C	NCBI36
NG_008607.2:g.52256T>C
NG_070230.1:g.57394T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3378T>C	ENSP00000489147.2:p.Pro1126=
ENST00000414786.7:n.3962T>C
ENST00000445220.7:c.2430T>C	ENSP00000489407.2:p.Pro810=
ENST00000664402.2:c.1920T>C	ENSP00000499475.1:p.Pro640=
ENST00000673971.2:c.*2376T>C	ENSP00000501192.1:n.*2376T>C
ENST00000445220.6:c.2430T>C	ENSP00000489407.2:p.Pro810=
ENST00000262795.6:c.3378T>C	ENSP00000489147.2:p.Pro1126=
ENST00000664402.1:c.1920T>C	ENSP00000499475.1:p.Pro640=
ENST00000673971.1:c.*2376T>C	ENSP00000501192.1:n.*2376T>C
ENST00000262795.5:c.3774T>C	ENSP00000489147.1:p.Pro1258=
ENST00000414786.6:n.3962T>C
ENST00000445220.5:c.3756T>C	ENSP00000489407.1:p.Pro1252=