Canonical Allele Identifier: CA497777154
Gene: RANGRF HGNC NCBI
SLC25A35 HGNC NCBI

Linked Data

gnomAD v4: 17-8288995-C-T
MyVariant Identifiers: chr17:g.8192313C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8288995C>T , CM000679.2:g.8288995C>T GRCh38
NC_000017.10:g.8192313C>T , CM000679.1:g.8192313C>T GRCh37
NC_000017.9:g.8133038C>T NCBI36
NG_028189.1:g.5345C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226105.11:c.117C>T (RANGRF) MANE Select ENSP00000226105.6:p.Cys39=
ENST00000226105.10:c.117C>T (RANGRF) ENSP00000226105.6:p.Cys39=
ENST00000380067.6:c.*621G>A (SLC25A35) ENSP00000369407.2:n.*621G>A
ENST00000407006.8:c.117C>T (RANGRF) ENSP00000383940.4:p.Cys39=
ENST00000439238.3:c.117C>T (RANGRF) ENSP00000413190.3:p.Cys39=
ENST00000578849.1:n.207C>T (RANGRF)
ENST00000579192.5:c.*43-563G>A (SLC25A35) ENSP00000462395.1:n.*43-563G>A
ENST00000580340.5:c.*488G>A (SLC25A35) ENSP00000464071.1:n.*488G>A
ENST00000580434.5:c.117C>T (RANGRF) ENSP00000462310.1:p.Cys39=
ENST00000580777.1:n.111C>T (RANGRF)
ENST00000581320.1:n.41G>A (SLC25A35)
ENST00000585311.5:c.*533G>A (SLC25A35) ENSP00000464191.1:n.*533G>A
NM_001177801.1:c.117C>T (RANGRF) NP_001171272.1:p.Cys39=
NM_001177802.1:c.117C>T (RANGRF) NP_001171273.1:p.Cys39=
NM_016492.4:c.117C>T (RANGRF) NP_057576.2:p.Cys39=
NM_201520.1:c.*621G>A (SLC25A35) NP_958928.1:n.*621G>A
XM_005256618.3:c.117C>T (RANGRF) XP_005256675.1:p.Cys39=
NM_001320871.1:c.*43-563G>A (SLC25A35) NP_001307800.1:n.*43-563G>A
NM_001320872.1:c.*488G>A (SLC25A35) NP_001307801.1:n.*488G>A
NM_001330127.1:c.117C>T (RANGRF) NP_001317056.1:p.Cys39=
NM_201520.2:c.*621G>A (SLC25A35) NP_958928.1:n.*621G>A
NR_135484.1:n.1945G>A (SLC25A35)
NM_016492.5:c.117C>T (RANGRF) MANE Select NP_057576.2:p.Cys39=
NM_001177801.2:c.117C>T (RANGRF) NP_001171272.1:p.Cys39=
NM_001177802.2:c.117C>T (RANGRF) NP_001171273.1:p.Cys39=
NM_001320871.2:c.*43-563G>A (SLC25A35) NP_001307800.1:n.*43-563G>A
NM_001330127.2:c.117C>T (RANGRF) NP_001317056.1:p.Cys39=
NM_201520.3:c.*621G>A (SLC25A35) NP_958928.1:n.*621G>A
NR_135483.2:n.2166G>A (SLC25A35)
NM_001320872.2:c.*488G>A (SLC25A35) NP_001307801.1:n.*488G>A
NR_135484.2:n.2002G>A (SLC25A35)