Canonical Allele Identifier: CA515264789

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160642G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722214G>C , CM000684.2:g.50722214G>C	GRCh38
NC_000022.10:g.51160642G>C , CM000684.1:g.51160642G>C	GRCh37
NC_000022.9:g.49507508G>C	NCBI36
NG_008607.2:g.52860G>C
NG_070230.1:g.57998G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3982G>C	ENSP00000489147.2:p.Ala1328Pro
ENST00000414786.7:n.4566G>C
ENST00000445220.7:c.3034G>C	ENSP00000489407.2:p.Ala1012Pro
ENST00000664402.2:c.2524G>C	ENSP00000499475.1:p.Ala842Pro
ENST00000673971.2:c.*2980G>C	ENSP00000501192.1:n.*2980G>C
ENST00000445220.6:c.3034G>C	ENSP00000489407.2:p.Ala1012Pro
ENST00000262795.6:c.3982G>C	ENSP00000489147.2:p.Ala1328Pro
ENST00000664402.1:c.2524G>C	ENSP00000499475.1:p.Ala842Pro
ENST00000673971.1:c.*2980G>C	ENSP00000501192.1:n.*2980G>C
ENST00000262795.5:c.4378G>C	ENSP00000489147.1:p.Ala1460Pro
ENST00000414786.6:n.4566G>C
ENST00000445220.5:c.4360G>C	ENSP00000489407.1:p.Ala1454Pro