Canonical Allele Identifier: CA3384096
Gene: LOX HGNC NCBI

Linked Data

ClinVar Variation Id: 1915884
ClinVar RCV Id: RCV002594166
dbSNP Id: rs2278226
ExAC: 5:121413456 G / T
gnomAD v2: 5-121413456-G-T
gnomAD v4: 5-122077761-G-T
MyVariant Identifiers: chr5:g.121413456G>T (hg19) chr5:g.122077761G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.122077761G>T , CM000667.2:g.122077761G>T GRCh38
NC_000005.9:g.121413456G>T , CM000667.1:g.121413456G>T GRCh37
NC_000005.8:g.121441355G>T NCBI36
NG_008722.1:g.5600C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000231004.5:c.225C>A MANE Select ENSP00000231004.4:p.Ala75=
ENST00000639739.2:c.225C>A ENSP00000492324.2:p.Ala75=
ENST00000231004.4:c.225C>A ENSP00000231004.4:p.Ala75=
NM_002317.5:c.225C>A NP_002308.2:p.Ala75=
NM_002317.6:c.225C>A NP_002308.2:p.Ala75=
NM_002317.7:c.225C>A MANE Select NP_002308.2:p.Ala75=
Search 100 bp 5'
Search 100 bp 3'