Canonical Allele Identifier: CA384387419
Gene: ALG10 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.34179775C>G (hg19) chr12:g.34026840C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.34026840C>G , CM000674.2:g.34026840C>G GRCh38
NC_000012.11:g.34179775C>G , CM000674.1:g.34179775C>G GRCh37
NC_000012.10:g.34071042C>G NCBI36
NG_016389.1:g.9560C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266483.7:c.1347C>G MANE Select ENSP00000266483.2:p.Phe449Leu
ENST00000266483.6:c.1347C>G ENSP00000266483.2:p.Phe449Leu
ENST00000538927.1:c.369+2681C>G ENSP00000444084.1:n.369+2681C>G
ENST00000541875.1:c.*1087C>G ENSP00000443142.1:n.*1087C>G
NM_032834.3:c.1347C>G NP_116223.3:p.Phe449Leu
XM_024449230.1:c.1167C>G XP_024304998.1:p.Phe389Leu
XM_024449231.1:c.1167C>G XP_024304999.1:p.Phe389Leu
NM_032834.4:c.1347C>G MANE Select NP_116223.3:p.Phe449Leu
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