LDH info

Canonical Allele Identifier: CA15840847
Gene: LOXL1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14362
ClinVar RCV Id: RCV000015436
dbSNP Id: rs2165241

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73929861T>C , CM000677.2:g.73929861T>C GRCh38
NC_000015.9:g.74222202T>C , CM000677.1:g.74222202T>C GRCh37
NC_000015.8:g.72009255T>C NCBI36
NG_011466.1:g.8414T>C

Transcript Alleles

HGVS Amino-acid change
NM_005576.2:c.1102+1976T>C VV NP_005567.2:p.=
XM_011521555.1:c.1102+1976T>C XP_011519857.1:p.=
XR_931824.1:n.1435+1976T>C
NM_005576.3:c.1102+1976T>C VV NP_005567.2:p.=
XM_011521555.2:c.1102+1976T>C XP_011519857.1:p.=
XR_931824.2:n.1424+1976T>C
NM_005576.4:c.1102+1976T>C VV MANE Preferred NP_005567.2:p.=
ENST00000261921.7:c.1102+1976T>C ENSP00000261921.7:p.=
ENST00000566011.5:c.1102+1976T>C ENSP00000457827.1:p.=