Canonical Allele Identifier: CA123899
Gene: LOX HGNC NCBI
COSMIC:
COSM448489 (not active)
MyVariant.info:
GRCh38 chr5:g.122077513C>T
GRCh37 chr5:g.121413208C>T
Revel Score:
ENST00000231004 (MANE Select) 0.048
ENST00000543620 0.048
gnomAD v2:
5:121413208 C / T
gnomAD v3:
5:122077513 C / T
gnomAD v4:
chr5-122077513-C-T
Joint Max Group AF 0.18592765 (EAS)
Genomes Max Group AF 0.18068489 (EAS)
Exomes Max Group AF 0.18555197 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.122077513C>T , CM000667.2:g.122077513C>T GRCh38
NC_000005.9:g.121413208C>T , CM000667.1:g.121413208C>T GRCh37
NC_000005.8:g.121441107C>T NCBI36
NG_008722.1:g.5848G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000231004.5:c.473G>A MANE Select ENSP00000231004.4:p.Arg158Gln
ENST00000639739.2:c.473G>A ENSP00000492324.2:p.Arg158Gln
ENST00000231004.4:c.473G>A ENSP00000231004.4:p.Arg158Gln
NM_002317.5:c.473G>A NP_002308.2:p.Arg158Gln
NM_002317.6:c.473G>A NP_002308.2:p.Arg158Gln
NM_002317.7:c.473G>A MANE Select NP_002308.2:p.Arg158Gln
Search 100 bp 5'
Search 100 bp 3'