LDH info

Canonical Allele Identifier: CA278055
Gene: MTHFR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3522
ClinVar RCV Id: RCV000003700
dbSNP Id: rs267606887

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11795158T>C , CM000663.2:g.11795158T>C GRCh38
NC_000001.10:g.11855215T>C , CM000663.1:g.11855215T>C GRCh37
NC_000001.9:g.11777802T>C NCBI36
NG_013351.1:g.15946A>G , LRG_726:g.15946A>G

Transcript Alleles

HGVS Amino-acid change
NM_005957.4:c.971A>G , LRG_726t1:c.971A>G NP_005948.3:p.Asn324Ser
XM_005263458.2:c.1094A>G XP_005263515.1:p.Asn365Ser
XM_005263460.3:c.971A>G XP_005263517.1:p.Asn324Ser
XM_005263461.3:c.971A>G XP_005263518.1:p.Asn324Ser
XM_005263462.3:c.971A>G XP_005263519.1:p.Asn324Ser
XM_005263463.2:c.725A>G XP_005263520.1:p.Asn242Ser
XM_011541495.1:c.1091A>G XP_011539797.1:p.Asn364Ser
XM_011541496.1:c.1094A>G XP_011539798.1:p.Asn365Ser
NM_001330358.1:c.1094A>G VV NP_001317287.1:p.Asn365Ser
XM_005263460.5:c.971A>G XP_005263517.1:p.Asn324Ser
XM_005263462.4:c.971A>G XP_005263519.1:p.Asn324Ser
XM_005263463.4:c.725A>G XP_005263520.1:p.Asn242Ser
XM_011541495.3:c.1091A>G XP_011539797.1:p.Asn364Ser
XM_011541496.3:c.1094A>G XP_011539798.1:p.Asn365Ser
XM_017001328.2:c.1094A>G XP_016856817.1:p.Asn365Ser
XM_024447198.1:c.725A>G XP_024302966.1:p.Asn242Ser
XR_002956640.1:n.1838A>G
ENST00000376583.7:n.1094A>G ENSP00000365767.3:p.Asn365Ser
ENST00000376585.5:c.1094A>G ENSP00000365770.1:p.Asn365Ser
ENST00000376590.7:c.971A>G ENSP00000365775.3:p.Asn324Ser
ENST00000376592.5:c.971A>G ENSP00000365777.1:p.Asn324Ser