Canonical Allele Identifier: CA515260243

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720771-A-C
• MyVariant Identifiers: chr22:g.51159199A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720771A>C , CM000684.2:g.50720771A>C	GRCh38
NC_000022.10:g.51159199A>C , CM000684.1:g.51159199A>C	GRCh37
NC_000022.9:g.49506065A>C	NCBI36
NG_008607.2:g.51417A>C
NG_070230.1:g.56555A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2539A>C	ENSP00000489147.2:p.Ser847Arg
ENST00000414786.7:n.3123A>C
ENST00000445220.7:c.1591A>C	ENSP00000489407.2:p.Ser531Arg
ENST00000664402.2:c.1081A>C	ENSP00000499475.1:p.Ser361Arg
ENST00000673971.2:c.*1537A>C	ENSP00000501192.1:n.*1537A>C
ENST00000445220.6:c.1591A>C	ENSP00000489407.2:p.Ser531Arg
ENST00000262795.6:c.2539A>C	ENSP00000489147.2:p.Ser847Arg
ENST00000664402.1:c.1081A>C	ENSP00000499475.1:p.Ser361Arg
ENST00000673971.1:c.*1537A>C	ENSP00000501192.1:n.*1537A>C
ENST00000262795.5:c.2935A>C	ENSP00000489147.1:p.Ser979Arg
ENST00000414786.6:n.3123A>C
ENST00000445220.5:c.2917A>C	ENSP00000489407.1:p.Ser973Arg