Canonical Allele Identifier: CA384387432
Gene: ALG10 HGNC NCBI

Linked Data

gnomAD v4: 12-34026842-T-C
MyVariant Identifiers: chr12:g.34179777T>C (hg19) chr12:g.34026842T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.34026842T>C , CM000674.2:g.34026842T>C GRCh38
NC_000012.11:g.34179777T>C , CM000674.1:g.34179777T>C GRCh37
NC_000012.10:g.34071044T>C NCBI36
NG_016389.1:g.9562T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266483.7:c.1349T>C MANE Select ENSP00000266483.2:p.Ile450Thr
ENST00000266483.6:c.1349T>C ENSP00000266483.2:p.Ile450Thr
ENST00000538927.1:c.369+2683T>C ENSP00000444084.1:n.369+2683T>C
ENST00000541875.1:c.*1089T>C ENSP00000443142.1:n.*1089T>C
NM_032834.3:c.1349T>C NP_116223.3:p.Ile450Thr
XM_024449230.1:c.1169T>C XP_024304998.1:p.Ile390Thr
XM_024449231.1:c.1169T>C XP_024304999.1:p.Ile390Thr
NM_032834.4:c.1349T>C MANE Select NP_116223.3:p.Ile450Thr
Search 100 bp 5'
Search 100 bp 3'