Canonical Allele Identifier: CA515263712

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721857-A-C
• MyVariant Identifiers: chr22:g.51160285A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721857A>C , CM000684.2:g.50721857A>C	GRCh38
NC_000022.10:g.51160285A>C , CM000684.1:g.51160285A>C	GRCh37
NC_000022.9:g.49507151A>C	NCBI36
NG_008607.2:g.52503A>C
NG_070230.1:g.57641A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3625A>C	ENSP00000489147.2:p.Ser1209Arg
ENST00000414786.7:n.4209A>C
ENST00000445220.7:c.2677A>C	ENSP00000489407.2:p.Ser893Arg
ENST00000664402.2:c.2167A>C	ENSP00000499475.1:p.Ser723Arg
ENST00000673971.2:c.*2623A>C	ENSP00000501192.1:n.*2623A>C
ENST00000445220.6:c.2677A>C	ENSP00000489407.2:p.Ser893Arg
ENST00000262795.6:c.3625A>C	ENSP00000489147.2:p.Ser1209Arg
ENST00000664402.1:c.2167A>C	ENSP00000499475.1:p.Ser723Arg
ENST00000673971.1:c.*2623A>C	ENSP00000501192.1:n.*2623A>C
ENST00000262795.5:c.4021A>C	ENSP00000489147.1:p.Ser1341Arg
ENST00000414786.6:n.4209A>C
ENST00000445220.5:c.4003A>C	ENSP00000489407.1:p.Ser1335Arg