Canonical Allele Identifier: CA374231246
Gene: ALG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.101983860T>A (hg19) chr9:g.99221578T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221578T>A , CM000671.2:g.99221578T>A GRCh38
NC_000009.11:g.101983860T>A , CM000671.1:g.101983860T>A GRCh37
NC_000009.10:g.101023681T>A NCBI36
NG_008928.1:g.5387A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.317A>T MANE Select ENSP00000417764.1:p.Asp106Val
ENST00000238477.5:c.317A>T ENSP00000432675.2:p.Asp106Val
ENST00000476832.1:c.317A>T ENSP00000417764.1:p.Asp106Val
NM_033087.3:c.317A>T NP_149078.1:p.Asp106Val
NR_024532.1:n.387A>T
NM_033087.4:c.317A>T MANE Select NP_149078.1:p.Asp106Val
NR_024532.2:n.365A>T
Search 100 bp 5'
Search 100 bp 3'