Canonical Allele Identifier: CA397994299
Gene: RANGRF HGNC NCBI
SLC25A35 HGNC NCBI

Linked Data

dbSNP Id: rs1412254734
gnomAD v2: 17-8192355-G-C
gnomAD v4: 17-8289037-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8289037G>C , CM000679.2:g.8289037G>C GRCh38
NC_000017.10:g.8192355G>C , CM000679.1:g.8192355G>C GRCh37
NC_000017.9:g.8133080G>C NCBI36
NG_028189.1:g.5387G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226105.11:c.159G>C (RANGRF) MANE Select ENSP00000226105.6:p.Glu53Asp
ENST00000226105.10:c.159G>C (RANGRF) ENSP00000226105.6:p.Glu53Asp
ENST00000380067.6:c.*579C>G (SLC25A35) ENSP00000369407.2:n.*579C>G
ENST00000407006.8:c.159G>C (RANGRF) ENSP00000383940.4:p.Glu53Asp
ENST00000439238.3:c.159G>C (RANGRF) ENSP00000413190.3:p.Glu53Asp
ENST00000578849.1:n.249G>C (RANGRF)
ENST00000579192.5:c.*42+537C>G (SLC25A35) ENSP00000462395.1:n.*42+537C>G
ENST00000580340.5:c.*446C>G (SLC25A35) ENSP00000464071.1:n.*446C>G
ENST00000580434.5:c.159G>C (RANGRF) ENSP00000462310.1:p.Glu53Asp
ENST00000580777.1:n.153G>C (RANGRF)
ENST00000585311.5:c.*491C>G (SLC25A35) ENSP00000464191.1:n.*491C>G
NM_001177801.1:c.159G>C (RANGRF) NP_001171272.1:p.Glu53Asp
NM_001177802.1:c.159G>C (RANGRF) NP_001171273.1:p.Glu53Asp
NM_016492.4:c.159G>C (RANGRF) NP_057576.2:p.Glu53Asp
NM_201520.1:c.*579C>G (SLC25A35) NP_958928.1:n.*579C>G
XM_005256618.3:c.159G>C (RANGRF) XP_005256675.1:p.Glu53Asp
NM_001320871.1:c.*42+537C>G (SLC25A35) NP_001307800.1:n.*42+537C>G
NM_001320872.1:c.*446C>G (SLC25A35) NP_001307801.1:n.*446C>G
NM_001330127.1:c.159G>C (RANGRF) NP_001317056.1:p.Glu53Asp
NM_201520.2:c.*579C>G (SLC25A35) NP_958928.1:n.*579C>G
NR_135484.1:n.1903C>G (SLC25A35)
NM_016492.5:c.159G>C (RANGRF) MANE Select NP_057576.2:p.Glu53Asp
NM_001177801.2:c.159G>C (RANGRF) NP_001171272.1:p.Glu53Asp
NM_001177802.2:c.159G>C (RANGRF) NP_001171273.1:p.Glu53Asp
NM_001320871.2:c.*42+537C>G (SLC25A35) NP_001307800.1:n.*42+537C>G
NM_001330127.2:c.159G>C (RANGRF) NP_001317056.1:p.Glu53Asp
NM_201520.3:c.*579C>G (SLC25A35) NP_958928.1:n.*579C>G
NR_135483.2:n.2124C>G (SLC25A35)
NM_001320872.2:c.*446C>G (SLC25A35) NP_001307801.1:n.*446C>G
NR_135484.2:n.1960C>G (SLC25A35)