Canonical Allele Identifier: CA466649042
Gene: ALG2 HGNC NCBI

Linked Data

gnomAD v4: 9-99221661-G-T
MyVariant Identifiers: chr9:g.101983943G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221661G>T , CM000671.2:g.99221661G>T GRCh38
NC_000009.11:g.101983943G>T , CM000671.1:g.101983943G>T GRCh37
NC_000009.10:g.101023764G>T NCBI36
NG_008928.1:g.5304C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.234C>A MANE Select ENSP00000417764.1:p.Gly78=
ENST00000238477.5:c.234C>A ENSP00000432675.2:p.Gly78=
ENST00000476832.1:c.234C>A ENSP00000417764.1:p.Gly78=
NM_033087.3:c.234C>A NP_149078.1:p.Gly78=
NR_024532.1:n.304C>A
NM_033087.4:c.234C>A MANE Select NP_149078.1:p.Gly78=
NR_024532.2:n.282C>A
Search 100 bp 5'
Search 100 bp 3'