Canonical Allele Identifier: CA981246460
Gene: RANGRF HGNC NCBI
SLC25A35 HGNC NCBI

Linked Data

dbSNP Id: rs1990270865
gnomAD v3: 17-8289099-A-G
gnomAD v4: 17-8289099-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8289099A>G , CM000679.2:g.8289099A>G GRCh38
NC_000017.10:g.8192417A>G , CM000679.1:g.8192417A>G GRCh37
NC_000017.9:g.8133142A>G NCBI36
NG_028189.1:g.5449A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226105.11:c.194+27A>G (RANGRF) MANE Select ENSP00000226105.6:n.194+27A>G
ENST00000226105.10:c.194+27A>G (RANGRF) ENSP00000226105.6:n.194+27A>G
ENST00000380067.6:c.*517T>C (SLC25A35) ENSP00000369407.2:n.*517T>C
ENST00000407006.8:c.194+27A>G (RANGRF) ENSP00000383940.4:n.194+27A>G
ENST00000439238.3:c.194+27A>G (RANGRF) ENSP00000413190.3:n.194+27A>G
ENST00000578849.1:n.311A>G (RANGRF)
ENST00000579192.5:c.*42+475T>C (SLC25A35) ENSP00000462395.1:n.*42+475T>C
ENST00000580340.5:c.*384T>C (SLC25A35) ENSP00000464071.1:n.*384T>C
ENST00000580434.5:c.194+27A>G (RANGRF) ENSP00000462310.1:n.194+27A>G
ENST00000580777.1:n.188+27A>G (RANGRF)
ENST00000585311.5:c.*429T>C (SLC25A35) ENSP00000464191.1:n.*429T>C
NM_001177801.1:c.194+27A>G (RANGRF) NP_001171272.1:n.194+27A>G
NM_001177802.1:c.194+27A>G (RANGRF) NP_001171273.1:n.194+27A>G
NM_016492.4:c.194+27A>G (RANGRF) NP_057576.2:n.194+27A>G
NM_201520.1:c.*517T>C (SLC25A35) NP_958928.1:n.*517T>C
XM_005256618.3:c.194+27A>G (RANGRF) XP_005256675.1:n.194+27A>G
NM_001320871.1:c.*42+475T>C (SLC25A35) NP_001307800.1:n.*42+475T>C
NM_001320872.1:c.*384T>C (SLC25A35) NP_001307801.1:n.*384T>C
NM_001330127.1:c.194+27A>G (RANGRF) NP_001317056.1:n.194+27A>G
NM_201520.2:c.*517T>C (SLC25A35) NP_958928.1:n.*517T>C
NR_135484.1:n.1841T>C (SLC25A35)
NM_016492.5:c.194+27A>G (RANGRF) MANE Select NP_057576.2:n.194+27A>G
NM_001177801.2:c.194+27A>G (RANGRF) NP_001171272.1:n.194+27A>G
NM_001177802.2:c.194+27A>G (RANGRF) NP_001171273.1:n.194+27A>G
NM_001320871.2:c.*42+475T>C (SLC25A35) NP_001307800.1:n.*42+475T>C
NM_001330127.2:c.194+27A>G (RANGRF) NP_001317056.1:n.194+27A>G
NM_201520.3:c.*517T>C (SLC25A35) NP_958928.1:n.*517T>C
NR_135483.2:n.2062T>C (SLC25A35)
NM_001320872.2:c.*384T>C (SLC25A35) NP_001307801.1:n.*384T>C
NR_135484.2:n.1898T>C (SLC25A35)