Canonical Allele Identifier: CA515263596
Gene: SHANK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.51160248G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50721820G>C , CM000684.2:g.50721820G>C GRCh38
NC_000022.10:g.51160248G>C , CM000684.1:g.51160248G>C GRCh37
NC_000022.9:g.49507114G>C NCBI36
NG_008607.2:g.52466G>C
NG_070230.1:g.57604G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.3588G>C ENSP00000489147.2:p.Ser1196=
ENST00000414786.7:n.4172G>C
ENST00000445220.7:c.2640G>C ENSP00000489407.2:p.Ser880=
ENST00000664402.2:c.2130G>C ENSP00000499475.1:p.Ser710=
ENST00000673971.2:c.*2586G>C ENSP00000501192.1:n.*2586G>C
ENST00000445220.6:c.2640G>C ENSP00000489407.2:p.Ser880=
ENST00000262795.6:c.3588G>C ENSP00000489147.2:p.Ser1196=
ENST00000664402.1:c.2130G>C ENSP00000499475.1:p.Ser710=
ENST00000673971.1:c.*2586G>C ENSP00000501192.1:n.*2586G>C
ENST00000262795.5:c.3984G>C ENSP00000489147.1:p.Ser1328=
ENST00000414786.6:n.4172G>C
ENST00000445220.5:c.3966G>C ENSP00000489407.1:p.Ser1322=
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