Canonical Allele Identifier: CA287570468
Gene: RANGRF HGNC NCBI
SLC25A35 HGNC NCBI

Linked Data

dbSNP Id: rs947264163
gnomAD v2: 17-8191900-C-T
gnomAD v3: 17-8288582-C-T
gnomAD v4: 17-8288582-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8288582C>T , CM000679.2:g.8288582C>T GRCh38
NC_000017.10:g.8191900C>T , CM000679.1:g.8191900C>T GRCh37
NC_000017.9:g.8132625C>T NCBI36
NG_028189.1:g.4932C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226105.10:c.-207C>T (RANGRF) ENSP00000226105.6:n.-207C>T
ENST00000380067.6:c.*1034G>A (SLC25A35) ENSP00000369407.2:n.*1034G>A
ENST00000579192.5:c.*43-150G>A (SLC25A35) ENSP00000462395.1:n.*43-150G>A
ENST00000581320.1:n.91-150G>A (SLC25A35)
NM_201520.1:c.*1034G>A (SLC25A35) NP_958928.1:n.*1034G>A
XM_005256618.3:c.-207C>T (RANGRF) XP_005256675.1:n.-207C>T
NM_001320871.1:c.*43-150G>A (SLC25A35) NP_001307800.1:n.*43-150G>A
NM_001330127.1:c.-207C>T (RANGRF) NP_001317056.1:n.-207C>T
NM_201520.2:c.*1034G>A (SLC25A35) NP_958928.1:n.*1034G>A
NM_001320871.2:c.*43-150G>A (SLC25A35) NP_001307800.1:n.*43-150G>A
NM_201520.3:c.*1034G>A (SLC25A35) NP_958928.1:n.*1034G>A
NR_135483.2:n.2579G>A (SLC25A35)