Canonical Allele Identifier: CA497777155
Gene: RANGRF HGNC NCBI
SLC25A35 HGNC NCBI

Linked Data

dbSNP Id: rs1352759298
gnomAD v2: 17-8192316-T-C
gnomAD v4: 17-8288998-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8288998T>C , CM000679.2:g.8288998T>C GRCh38
NC_000017.10:g.8192316T>C , CM000679.1:g.8192316T>C GRCh37
NC_000017.9:g.8133041T>C NCBI36
NG_028189.1:g.5348T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226105.11:c.120T>C (RANGRF) MANE Select ENSP00000226105.6:p.His40=
ENST00000226105.10:c.120T>C (RANGRF) ENSP00000226105.6:p.His40=
ENST00000380067.6:c.*618A>G (SLC25A35) ENSP00000369407.2:n.*618A>G
ENST00000407006.8:c.120T>C (RANGRF) ENSP00000383940.4:p.His40=
ENST00000439238.3:c.120T>C (RANGRF) ENSP00000413190.3:p.His40=
ENST00000578849.1:n.210T>C (RANGRF)
ENST00000579192.5:c.*43-566A>G (SLC25A35) ENSP00000462395.1:n.*43-566A>G
ENST00000580340.5:c.*485A>G (SLC25A35) ENSP00000464071.1:n.*485A>G
ENST00000580434.5:c.120T>C (RANGRF) ENSP00000462310.1:p.His40=
ENST00000580777.1:n.114T>C (RANGRF)
ENST00000581320.1:n.38A>G (SLC25A35)
ENST00000585311.5:c.*530A>G (SLC25A35) ENSP00000464191.1:n.*530A>G
NM_001177801.1:c.120T>C (RANGRF) NP_001171272.1:p.His40=
NM_001177802.1:c.120T>C (RANGRF) NP_001171273.1:p.His40=
NM_016492.4:c.120T>C (RANGRF) NP_057576.2:p.His40=
NM_201520.1:c.*618A>G (SLC25A35) NP_958928.1:n.*618A>G
XM_005256618.3:c.120T>C (RANGRF) XP_005256675.1:p.His40=
NM_001320871.1:c.*43-566A>G (SLC25A35) NP_001307800.1:n.*43-566A>G
NM_001320872.1:c.*485A>G (SLC25A35) NP_001307801.1:n.*485A>G
NM_001330127.1:c.120T>C (RANGRF) NP_001317056.1:p.His40=
NM_201520.2:c.*618A>G (SLC25A35) NP_958928.1:n.*618A>G
NR_135484.1:n.1942A>G (SLC25A35)
NM_016492.5:c.120T>C (RANGRF) MANE Select NP_057576.2:p.His40=
NM_001177801.2:c.120T>C (RANGRF) NP_001171272.1:p.His40=
NM_001177802.2:c.120T>C (RANGRF) NP_001171273.1:p.His40=
NM_001320871.2:c.*43-566A>G (SLC25A35) NP_001307800.1:n.*43-566A>G
NM_001330127.2:c.120T>C (RANGRF) NP_001317056.1:p.His40=
NM_201520.3:c.*618A>G (SLC25A35) NP_958928.1:n.*618A>G
NR_135483.2:n.2163A>G (SLC25A35)
NM_001320872.2:c.*485A>G (SLC25A35) NP_001307801.1:n.*485A>G
NR_135484.2:n.1999A>G (SLC25A35)