Canonical Allele Identifier: CA360876052
Gene: LOX HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.122077513C>A
GRCh37 chr5:g.121413208C>A
Revel Score:
ENST00000231004 (MANE Select) 0.023
ENST00000543620 0.023
ClinVar RCV:
RCV003662803
ClinVar Variation:
2775878
dbSNP:
1800449
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000231004.5:c.473G>T MANE Select ENSP00000231004.4:p.Arg158Leu
ENST00000639739.2:c.473G>T ENSP00000492324.2:p.Arg158Leu
ENST00000231004.4:c.473G>T ENSP00000231004.4:p.Arg158Leu
NM_002317.5:c.473G>T NP_002308.2:p.Arg158Leu
NM_002317.6:c.473G>T NP_002308.2:p.Arg158Leu
NM_002317.7:c.473G>T MANE Select NP_002308.2:p.Arg158Leu
Search 100 bp 5'
Search 100 bp 3'