Canonical Allele Identifier: CA515261807
Gene: SHANK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.51159748C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50721320C>G , CM000684.2:g.50721320C>G GRCh38
NC_000022.10:g.51159748C>G , CM000684.1:g.51159748C>G GRCh37
NC_000022.9:g.49506614C>G NCBI36
NG_008607.2:g.51966C>G
NG_070230.1:g.57104C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.3088C>G ENSP00000489147.2:p.Pro1030Ala
ENST00000414786.7:n.3672C>G
ENST00000445220.7:c.2140C>G ENSP00000489407.2:p.Pro714Ala
ENST00000664402.2:c.1630C>G ENSP00000499475.1:p.Pro544Ala
ENST00000673971.2:c.*2086C>G ENSP00000501192.1:n.*2086C>G
ENST00000445220.6:c.2140C>G ENSP00000489407.2:p.Pro714Ala
ENST00000262795.6:c.3088C>G ENSP00000489147.2:p.Pro1030Ala
ENST00000664402.1:c.1630C>G ENSP00000499475.1:p.Pro544Ala
ENST00000673971.1:c.*2086C>G ENSP00000501192.1:n.*2086C>G
ENST00000262795.5:c.3484C>G ENSP00000489147.1:p.Pro1162Ala
ENST00000414786.6:n.3672C>G
ENST00000445220.5:c.3466C>G ENSP00000489407.1:p.Pro1156Ala
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