Canonical Allele Identifier: CA374231688
Gene: ALG2 HGNC NCBI

Linked Data

gnomAD v4: 9-99221653-C-T
MyVariant Identifiers: chr9:g.101983935C>T (hg19) chr9:g.99221653C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221653C>T , CM000671.2:g.99221653C>T GRCh38
NC_000009.11:g.101983935C>T , CM000671.1:g.101983935C>T GRCh37
NC_000009.10:g.101023756C>T NCBI36
NG_008928.1:g.5312G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.242G>A MANE Select ENSP00000417764.1:p.Trp81Ter
ENST00000238477.5:c.242G>A ENSP00000432675.2:p.Trp81Ter
ENST00000476832.1:c.242G>A ENSP00000417764.1:p.Trp81Ter
NM_033087.3:c.242G>A NP_149078.1:p.Trp81Ter
NR_024532.1:n.312G>A
NM_033087.4:c.242G>A MANE Select NP_149078.1:p.Trp81Ter
NR_024532.2:n.290G>A
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