Canonical Allele Identifier: CA497777151
Gene: RANGRF HGNC NCBI
SLC25A35 HGNC NCBI

Linked Data

gnomAD v4: 17-8288989-T-C
MyVariant Identifiers: chr17:g.8192307T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8288989T>C , CM000679.2:g.8288989T>C GRCh38
NC_000017.10:g.8192307T>C , CM000679.1:g.8192307T>C GRCh37
NC_000017.9:g.8133032T>C NCBI36
NG_028189.1:g.5339T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226105.11:c.111T>C (RANGRF) MANE Select ENSP00000226105.6:p.Val37=
ENST00000226105.10:c.111T>C (RANGRF) ENSP00000226105.6:p.Val37=
ENST00000380067.6:c.*627A>G (SLC25A35) ENSP00000369407.2:n.*627A>G
ENST00000407006.8:c.111T>C (RANGRF) ENSP00000383940.4:p.Val37=
ENST00000439238.3:c.111T>C (RANGRF) ENSP00000413190.3:p.Val37=
ENST00000578849.1:n.201T>C (RANGRF)
ENST00000579192.5:c.*43-557A>G (SLC25A35) ENSP00000462395.1:n.*43-557A>G
ENST00000580340.5:c.*494A>G (SLC25A35) ENSP00000464071.1:n.*494A>G
ENST00000580434.5:c.111T>C (RANGRF) ENSP00000462310.1:p.Val37=
ENST00000580777.1:n.105T>C (RANGRF)
ENST00000581320.1:n.47A>G (SLC25A35)
ENST00000585311.5:c.*539A>G (SLC25A35) ENSP00000464191.1:n.*539A>G
NM_001177801.1:c.111T>C (RANGRF) NP_001171272.1:p.Val37=
NM_001177802.1:c.111T>C (RANGRF) NP_001171273.1:p.Val37=
NM_016492.4:c.111T>C (RANGRF) NP_057576.2:p.Val37=
NM_201520.1:c.*627A>G (SLC25A35) NP_958928.1:n.*627A>G
XM_005256618.3:c.111T>C (RANGRF) XP_005256675.1:p.Val37=
NM_001320871.1:c.*43-557A>G (SLC25A35) NP_001307800.1:n.*43-557A>G
NM_001320872.1:c.*494A>G (SLC25A35) NP_001307801.1:n.*494A>G
NM_001330127.1:c.111T>C (RANGRF) NP_001317056.1:p.Val37=
NM_201520.2:c.*627A>G (SLC25A35) NP_958928.1:n.*627A>G
NR_135484.1:n.1951A>G (SLC25A35)
NM_016492.5:c.111T>C (RANGRF) MANE Select NP_057576.2:p.Val37=
NM_001177801.2:c.111T>C (RANGRF) NP_001171272.1:p.Val37=
NM_001177802.2:c.111T>C (RANGRF) NP_001171273.1:p.Val37=
NM_001320871.2:c.*43-557A>G (SLC25A35) NP_001307800.1:n.*43-557A>G
NM_001330127.2:c.111T>C (RANGRF) NP_001317056.1:p.Val37=
NM_201520.3:c.*627A>G (SLC25A35) NP_958928.1:n.*627A>G
NR_135483.2:n.2172A>G (SLC25A35)
NM_001320872.2:c.*494A>G (SLC25A35) NP_001307801.1:n.*494A>G
NR_135484.2:n.2008A>G (SLC25A35)