LDH info

Canonical Allele Identifier: CA239868
Gene: MTHFR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 194071
dbSNP Id: rs2274976

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11790870C>T , CM000663.2:g.11790870C>T GRCh38
NC_000001.10:g.11850927C>T , CM000663.1:g.11850927C>T GRCh37
NC_000001.9:g.11773514C>T NCBI36
NG_013351.1:g.20234G>A , LRG_726:g.20234G>A

Transcript Alleles

HGVS Amino-acid change
NM_005957.4:c.1781G>A , LRG_726t1:c.1781G>A NP_005948.3:p.Arg594Gln
XM_005263458.2:c.1904G>A XP_005263515.1:p.Arg635Gln
XM_005263460.3:c.1781G>A XP_005263517.1:p.Arg594Gln
XM_005263461.3:c.1781G>A XP_005263518.1:p.Arg594Gln
XM_005263462.3:c.1781G>A XP_005263519.1:p.Arg594Gln
XM_005263463.2:c.1535G>A XP_005263520.1:p.Arg512Gln
XM_011541495.1:c.1901G>A XP_011539797.1:p.Arg634Gln
XM_011541496.1:c.1876-154G>A XP_011539798.1:p.=
NM_001330358.1:c.1904G>A VV NP_001317287.1:p.Arg635Gln
XM_005263460.5:c.1781G>A XP_005263517.1:p.Arg594Gln
XM_005263462.4:c.1781G>A XP_005263519.1:p.Arg594Gln
XM_005263463.4:c.1535G>A XP_005263520.1:p.Arg512Gln
XM_011541495.3:c.1901G>A XP_011539797.1:p.Arg634Gln
XM_011541496.3:c.1876-154G>A XP_011539798.1:p.=
XM_017001328.2:c.1876-122G>A XP_016856817.1:p.=
XM_024447198.1:c.1535G>A XP_024302966.1:p.Arg512Gln
XR_002956640.1:n.2854-154G>A
NM_005957.5:c.1781G>A VV MANE Preferred NP_005948.3:p.Arg594Gln
ENST00000376583.7:n.1904G>A ENSP00000365767.3:p.Arg635Gln
ENST00000376585.5:c.1904G>A ENSP00000365770.1:p.Arg635Gln
ENST00000376590.7:c.1781G>A ENSP00000365775.3:p.Arg594Gln
ENST00000376592.5:c.1781G>A ENSP00000365777.1:p.Arg594Gln