LDH info

Canonical Allele Identifier: CA127599
Gene: IFNGR1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 17944
dbSNP Id: rs104893973

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.137206249A>G , CM000668.2:g.137206249A>G GRCh38
NC_000006.11:g.137527386A>G , CM000668.1:g.137527386A>G GRCh37
NC_000006.10:g.137569079A>G NCBI36
NG_007394.1:g.18182T>C , LRG_66:g.18182T>C

Transcript Alleles

HGVS Amino-acid change
NM_000416.2:c.260T>C , LRG_66t1:c.260T>C NP_000407.1:p.Ile87Thr
XM_006715470.2:c.230T>C XP_006715533.1:p.Ile77Thr
XM_006715471.2:c.137T>C XP_006715534.1:p.Ile46Thr
XM_011535793.1:c.230T>C XP_011534095.1:p.Ile77Thr
XM_011535794.1:c.230T>C XP_011534096.1:p.Ile77Thr
NM_001363526.1:c.230T>C VV NP_001350455.1:p.Ile77Thr
NM_001363527.1:c.137T>C VV NP_001350456.1:p.Ile46Thr
XM_006715470.3:c.230T>C XP_006715533.1:p.Ile77Thr
XM_011535793.2:c.230T>C XP_011534095.1:p.Ile77Thr
NM_000416.3:c.260T>C VV MANE Preferred NP_000407.1:p.Ile87Thr
ENST00000367739.8:c.260T>C ENSP00000356713.4:p.Ile87Thr
ENST00000414770.5:c.230T>C ENSP00000394230.1:p.Ile77Thr
ENST00000458076.5:c.201-43T>C ENSP00000389249.1:p.=
ENST00000543628.5:c.260T>C ENSP00000443282.2:p.Ile87Thr