LDH info

Canonical Allele Identifier: CA16043099
Gene: NF1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372756
dbSNP Id: rs1057517967

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31181724G>A , CM000679.2:g.31181724G>A GRCh38
NC_000017.10:g.29508742G>A , CM000679.1:g.29508742G>A GRCh37
NC_000017.9:g.26532868G>A NCBI36
NG_009018.1:g.91748G>A , LRG_214:g.91748G>A

Transcript Alleles

HGVS Amino-acid change
NM_000267.3:c.669G>A , LRG_214t1:c.669G>A NP_000258.1:p.Trp223Ter
NM_001042492.2:c.669G>A , LRG_214t2:c.669G>A NP_001035957.1:p.Trp223Ter
NM_001128147.2:c.669G>A VV NP_001121619.1:p.Trp223Ter
XM_005257983.1:c.669G>A XP_005258040.1:p.Trp223Ter
XM_005257984.1:c.669G>A XP_005258041.1:p.Trp223Ter
XM_006721922.1:c.669G>A XP_006721985.1:p.Trp223Ter
XM_006721923.2:c.630G>A XP_006721986.1:p.Trp210Ter
XM_006721924.1:c.669G>A XP_006721987.1:p.Trp223Ter
XM_006721925.1:c.669G>A XP_006721988.1:p.Trp223Ter
XM_006721926.2:c.669G>A XP_006721989.1:p.Trp223Ter
XM_006721927.1:c.669G>A XP_006721990.1:p.Trp223Ter
XM_006721928.2:c.669G>A XP_006721991.1:p.Trp223Ter
XM_011524852.1:c.669G>A XP_011523154.1:p.Trp223Ter
XM_011524853.1:c.630G>A XP_011523155.1:p.Trp210Ter
XM_011524854.1:c.630G>A XP_011523156.1:p.Trp210Ter
XM_011524855.1:c.630G>A XP_011523157.1:p.Trp210Ter
XM_011524856.1:c.630G>A XP_011523158.1:p.Trp210Ter
XM_011524857.1:c.669G>A XP_011523159.1:p.Trp223Ter
NM_001042492.3:c.669G>A VV MANE Preferred NP_001035957.1:p.Trp223Ter
NM_001128147.3:c.669G>A VV NP_001121619.1:p.Trp223Ter
ENST00000356175.7:c.669G>A ENSP00000348498.3:p.Trp223Ter
ENST00000358273.8:c.669G>A ENSP00000351015.4:p.Trp223Ter
ENST00000431387.8:c.669G>A ENSP00000412921.4:p.Trp223Ter
ENST00000487476.5:n.1052G>A
ENST00000490416.1:n.303G>A
ENST00000495910.6:n.444G>A
ENST00000579081.5:n.771G>A ENSP00000462408.1:p.Trp257Ter