Canonical Allele Identifier: CA374231513
Gene: ALG2 HGNC NCBI

Linked Data

gnomAD v4: 9-99221623-T-C
MyVariant Identifiers: chr9:g.101983905T>C (hg19) chr9:g.99221623T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221623T>C , CM000671.2:g.99221623T>C GRCh38
NC_000009.11:g.101983905T>C , CM000671.1:g.101983905T>C GRCh37
NC_000009.10:g.101023726T>C NCBI36
NG_008928.1:g.5342A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.272A>G MANE Select ENSP00000417764.1:p.Tyr91Cys
ENST00000238477.5:c.272A>G ENSP00000432675.2:p.Tyr91Cys
ENST00000476832.1:c.272A>G ENSP00000417764.1:p.Tyr91Cys
NM_033087.3:c.272A>G NP_149078.1:p.Tyr91Cys
NR_024532.1:n.342A>G
NM_033087.4:c.272A>G MANE Select NP_149078.1:p.Tyr91Cys
NR_024532.2:n.320A>G
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