Canonical Allele Identifier: CA3384095

Gene: LOX

Linked Data

• ClinVar Variation Id: 496150
• ClinVar RCV Id: RCV001803867 ; RCV002448822 ; RCV003485610
• dbSNP Id: rs2278226
• ExAC: 5:121413456 G / C
• gnomAD v2: 5-121413456-G-C
• gnomAD v3: 5-122077761-G-C
• gnomAD v4: 5-122077761-G-C
• MyVariant Identifiers: chr5:g.121413456G>C (hg19) ; chr5:g.122077761G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000231004.5:c.225C>G MANE Select	ENSP00000231004.4:p.Ala75=
ENST00000639739.2:c.225C>G	ENSP00000492324.2:p.Ala75=
ENST00000231004.4:c.225C>G	ENSP00000231004.4:p.Ala75=
NM_002317.5:c.225C>G	NP_002308.2:p.Ala75=
NM_002317.6:c.225C>G	NP_002308.2:p.Ala75=
NM_002317.7:c.225C>G MANE Select	NP_002308.2:p.Ala75=