Canonical Allele Identifier: CA981246234
Gene: RANGRF HGNC NCBI
SLC25A35 HGNC NCBI

Linked Data

dbSNP Id: rs1597439394
gnomAD v3: 17-8288594-G-C
gnomAD v4: 17-8288594-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8288594G>C , CM000679.2:g.8288594G>C GRCh38
NC_000017.10:g.8191912G>C , CM000679.1:g.8191912G>C GRCh37
NC_000017.9:g.8132637G>C NCBI36
NG_028189.1:g.4944G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226105.10:c.-195G>C (RANGRF) ENSP00000226105.6:n.-195G>C
ENST00000380067.6:c.*1022C>G (SLC25A35) ENSP00000369407.2:n.*1022C>G
ENST00000579192.5:c.*43-162C>G (SLC25A35) ENSP00000462395.1:n.*43-162C>G
ENST00000581320.1:n.91-162C>G (SLC25A35)
NM_201520.1:c.*1022C>G (SLC25A35) NP_958928.1:n.*1022C>G
XM_005256618.3:c.-195G>C (RANGRF) XP_005256675.1:n.-195G>C
NM_001320871.1:c.*43-162C>G (SLC25A35) NP_001307800.1:n.*43-162C>G
NM_001330127.1:c.-195G>C (RANGRF) NP_001317056.1:n.-195G>C
NM_201520.2:c.*1022C>G (SLC25A35) NP_958928.1:n.*1022C>G
NM_001320871.2:c.*43-162C>G (SLC25A35) NP_001307800.1:n.*43-162C>G
NM_201520.3:c.*1022C>G (SLC25A35) NP_958928.1:n.*1022C>G
NR_135483.2:n.2567C>G (SLC25A35)