LDH info

Canonical Allele Identifier: CA116320
Gene: MTHFR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3521
dbSNP Id: rs1801131

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11794419T>G , CM000663.2:g.11794419T>G GRCh38
NC_000001.10:g.11854476T>G , CM000663.1:g.11854476T>G GRCh37
NC_000001.9:g.11777063T>G NCBI36
NG_013351.1:g.16685A>C , LRG_726:g.16685A>C

Transcript Alleles

HGVS Amino-acid change
NM_005957.4:c.1286A>C , LRG_726t1:c.1286A>C NP_005948.3:p.Glu429Ala
XM_005263458.2:c.1409A>C XP_005263515.1:p.Glu470Ala
XM_005263460.3:c.1286A>C XP_005263517.1:p.Glu429Ala
XM_005263461.3:c.1286A>C XP_005263518.1:p.Glu429Ala
XM_005263462.3:c.1286A>C XP_005263519.1:p.Glu429Ala
XM_005263463.2:c.1040A>C XP_005263520.1:p.Glu347Ala
XM_011541495.1:c.1406A>C XP_011539797.1:p.Glu469Ala
XM_011541496.1:c.1409A>C XP_011539798.1:p.Glu470Ala
NM_001330358.1:c.1409A>C VV NP_001317287.1:p.Glu470Ala
XM_005263460.5:c.1286A>C XP_005263517.1:p.Glu429Ala
XM_005263462.4:c.1286A>C XP_005263519.1:p.Glu429Ala
XM_005263463.4:c.1040A>C XP_005263520.1:p.Glu347Ala
XM_011541495.3:c.1406A>C XP_011539797.1:p.Glu469Ala
XM_011541496.3:c.1409A>C XP_011539798.1:p.Glu470Ala
XM_017001328.2:c.1409A>C XP_016856817.1:p.Glu470Ala
XM_024447198.1:c.1040A>C XP_024302966.1:p.Glu347Ala
XR_002956640.1:n.2387A>C
NM_005957.5:c.1286A>C VV NP_005948.3:p.Glu429Ala
ENST00000376583.7:n.1409A>C ENSP00000365767.3:p.Glu470Ala
ENST00000376585.5:c.1409A>C ENSP00000365770.1:p.Glu470Ala
ENST00000376590.7:c.1286A>C ENSP00000365775.3:p.Glu429Ala
ENST00000376592.5:c.1286A>C ENSP00000365777.1:p.Glu429Ala