Canonical Allele Identifier: CA515260081

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720715-A-C
• MyVariant Identifiers: chr22:g.51159143A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720715A>C , CM000684.2:g.50720715A>C	GRCh38
NC_000022.10:g.51159143A>C , CM000684.1:g.51159143A>C	GRCh37
NC_000022.9:g.49506009A>C	NCBI36
NG_008607.2:g.51361A>C
NG_070230.1:g.56499A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2483A>C	ENSP00000489147.2:p.Glu828Ala
ENST00000414786.7:n.3067A>C
ENST00000445220.7:c.1535A>C	ENSP00000489407.2:p.Glu512Ala
ENST00000664402.2:c.1025A>C	ENSP00000499475.1:p.Glu342Ala
ENST00000673971.2:c.*1481A>C	ENSP00000501192.1:n.*1481A>C
ENST00000445220.6:c.1535A>C	ENSP00000489407.2:p.Glu512Ala
ENST00000262795.6:c.2483A>C	ENSP00000489147.2:p.Glu828Ala
ENST00000664402.1:c.1025A>C	ENSP00000499475.1:p.Glu342Ala
ENST00000673971.1:c.*1481A>C	ENSP00000501192.1:n.*1481A>C
ENST00000262795.5:c.2879A>C	ENSP00000489147.1:p.Glu960Ala
ENST00000414786.6:n.3067A>C
ENST00000445220.5:c.2861A>C	ENSP00000489407.1:p.Glu954Ala