Canonical Allele Identifier: CA397993611
Gene: RANGRF HGNC NCBI
SLC25A35 HGNC NCBI

Linked Data

dbSNP Id: rs771107391
gnomAD v3: 17-8288795-C-A
gnomAD v4: 17-8288795-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8288795C>A , CM000679.2:g.8288795C>A GRCh38
NC_000017.10:g.8192113C>A , CM000679.1:g.8192113C>A GRCh37
NC_000017.9:g.8132838C>A NCBI36
NG_028189.1:g.5145C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226105.11:c.7C>A (RANGRF) MANE Select ENSP00000226105.6:p.Pro3Thr
ENST00000226105.10:c.7C>A (RANGRF) ENSP00000226105.6:p.Pro3Thr
ENST00000380067.6:c.*821G>T (SLC25A35) ENSP00000369407.2:n.*821G>T
ENST00000407006.8:c.7C>A (RANGRF) ENSP00000383940.4:p.Pro3Thr
ENST00000439238.3:c.7C>A (RANGRF) ENSP00000413190.3:p.Pro3Thr
ENST00000578849.1:n.97C>A (RANGRF)
ENST00000579192.5:c.*43-363G>T (SLC25A35) ENSP00000462395.1:n.*43-363G>T
ENST00000580434.5:c.7C>A (RANGRF) ENSP00000462310.1:p.Pro3Thr
ENST00000581320.1:n.90+151G>T (SLC25A35)
NM_001177801.1:c.7C>A (RANGRF) NP_001171272.1:p.Pro3Thr
NM_001177802.1:c.7C>A (RANGRF) NP_001171273.1:p.Pro3Thr
NM_016492.4:c.7C>A (RANGRF) NP_057576.2:p.Pro3Thr
NM_201520.1:c.*821G>T (SLC25A35) NP_958928.1:n.*821G>T
XM_005256618.3:c.7C>A (RANGRF) XP_005256675.1:p.Pro3Thr
NM_001320871.1:c.*43-363G>T (SLC25A35) NP_001307800.1:n.*43-363G>T
NM_001330127.1:c.7C>A (RANGRF) NP_001317056.1:p.Pro3Thr
NM_201520.2:c.*821G>T (SLC25A35) NP_958928.1:n.*821G>T
NM_016492.5:c.7C>A (RANGRF) MANE Select NP_057576.2:p.Pro3Thr
NM_001177801.2:c.7C>A (RANGRF) NP_001171272.1:p.Pro3Thr
NM_001177802.2:c.7C>A (RANGRF) NP_001171273.1:p.Pro3Thr
NM_001320871.2:c.*43-363G>T (SLC25A35) NP_001307800.1:n.*43-363G>T
NM_001330127.2:c.7C>A (RANGRF) NP_001317056.1:p.Pro3Thr
NM_201520.3:c.*821G>T (SLC25A35) NP_958928.1:n.*821G>T
NR_135483.2:n.2366G>T (SLC25A35)