Canonical Allele Identifier: CA515263582
Gene: SHANK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.51160243C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50721815C>G , CM000684.2:g.50721815C>G GRCh38
NC_000022.10:g.51160243C>G , CM000684.1:g.51160243C>G GRCh37
NC_000022.9:g.49507109C>G NCBI36
NG_008607.2:g.52461C>G
NG_070230.1:g.57599C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.3583C>G ENSP00000489147.2:p.Pro1195Ala
ENST00000414786.7:n.4167C>G
ENST00000445220.7:c.2635C>G ENSP00000489407.2:p.Pro879Ala
ENST00000664402.2:c.2125C>G ENSP00000499475.1:p.Pro709Ala
ENST00000673971.2:c.*2581C>G ENSP00000501192.1:n.*2581C>G
ENST00000445220.6:c.2635C>G ENSP00000489407.2:p.Pro879Ala
ENST00000262795.6:c.3583C>G ENSP00000489147.2:p.Pro1195Ala
ENST00000664402.1:c.2125C>G ENSP00000499475.1:p.Pro709Ala
ENST00000673971.1:c.*2581C>G ENSP00000501192.1:n.*2581C>G
ENST00000262795.5:c.3979C>G ENSP00000489147.1:p.Pro1327Ala
ENST00000414786.6:n.4167C>G
ENST00000445220.5:c.3961C>G ENSP00000489407.1:p.Pro1321Ala
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