Canonical Allele Identifier: CA515261778
Gene: SHANK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.51159741T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50721313T>A , CM000684.2:g.50721313T>A GRCh38
NC_000022.10:g.51159741T>A , CM000684.1:g.51159741T>A GRCh37
NC_000022.9:g.49506607T>A NCBI36
NG_008607.2:g.51959T>A
NG_070230.1:g.57097T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.3081T>A ENSP00000489147.2:p.Ala1027=
ENST00000414786.7:n.3665T>A
ENST00000445220.7:c.2133T>A ENSP00000489407.2:p.Ala711=
ENST00000664402.2:c.1623T>A ENSP00000499475.1:p.Ala541=
ENST00000673971.2:c.*2079T>A ENSP00000501192.1:n.*2079T>A
ENST00000445220.6:c.2133T>A ENSP00000489407.2:p.Ala711=
ENST00000262795.6:c.3081T>A ENSP00000489147.2:p.Ala1027=
ENST00000664402.1:c.1623T>A ENSP00000499475.1:p.Ala541=
ENST00000673971.1:c.*2079T>A ENSP00000501192.1:n.*2079T>A
ENST00000262795.5:c.3477T>A ENSP00000489147.1:p.Ala1159=
ENST00000414786.6:n.3665T>A
ENST00000445220.5:c.3459T>A ENSP00000489407.1:p.Ala1153=
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