Canonical Allele Identifier: CA497777076
Gene: RANGRF HGNC NCBI
SLC25A35 HGNC NCBI

Linked Data

gnomAD v4: 17-8288962-C-T
MyVariant Identifiers: chr17:g.8192280C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8288962C>T , CM000679.2:g.8288962C>T GRCh38
NC_000017.10:g.8192280C>T , CM000679.1:g.8192280C>T GRCh37
NC_000017.9:g.8133005C>T NCBI36
NG_028189.1:g.5312C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226105.11:c.84C>T (RANGRF) MANE Select ENSP00000226105.6:p.Leu28=
ENST00000226105.10:c.84C>T (RANGRF) ENSP00000226105.6:p.Leu28=
ENST00000380067.6:c.*654G>A (SLC25A35) ENSP00000369407.2:n.*654G>A
ENST00000407006.8:c.84C>T (RANGRF) ENSP00000383940.4:p.Leu28=
ENST00000439238.3:c.84C>T (RANGRF) ENSP00000413190.3:p.Leu28=
ENST00000578849.1:n.174C>T (RANGRF)
ENST00000579192.5:c.*43-530G>A (SLC25A35) ENSP00000462395.1:n.*43-530G>A
ENST00000580340.5:c.*521G>A (SLC25A35) ENSP00000464071.1:n.*521G>A
ENST00000580434.5:c.84C>T (RANGRF) ENSP00000462310.1:p.Leu28=
ENST00000580777.1:n.78C>T (RANGRF)
ENST00000581320.1:n.74G>A (SLC25A35)
ENST00000585311.5:c.*566G>A (SLC25A35) ENSP00000464191.1:n.*566G>A
NM_001177801.1:c.84C>T (RANGRF) NP_001171272.1:p.Leu28=
NM_001177802.1:c.84C>T (RANGRF) NP_001171273.1:p.Leu28=
NM_016492.4:c.84C>T (RANGRF) NP_057576.2:p.Leu28=
NM_201520.1:c.*654G>A (SLC25A35) NP_958928.1:n.*654G>A
XM_005256618.3:c.84C>T (RANGRF) XP_005256675.1:p.Leu28=
NM_001320871.1:c.*43-530G>A (SLC25A35) NP_001307800.1:n.*43-530G>A
NM_001320872.1:c.*521G>A (SLC25A35) NP_001307801.1:n.*521G>A
NM_001330127.1:c.84C>T (RANGRF) NP_001317056.1:p.Leu28=
NM_201520.2:c.*654G>A (SLC25A35) NP_958928.1:n.*654G>A
NR_135484.1:n.1978G>A (SLC25A35)
NM_016492.5:c.84C>T (RANGRF) MANE Select NP_057576.2:p.Leu28=
NM_001177801.2:c.84C>T (RANGRF) NP_001171272.1:p.Leu28=
NM_001177802.2:c.84C>T (RANGRF) NP_001171273.1:p.Leu28=
NM_001320871.2:c.*43-530G>A (SLC25A35) NP_001307800.1:n.*43-530G>A
NM_001330127.2:c.84C>T (RANGRF) NP_001317056.1:p.Leu28=
NM_201520.3:c.*654G>A (SLC25A35) NP_958928.1:n.*654G>A
NR_135483.2:n.2199G>A (SLC25A35)
NM_001320872.2:c.*521G>A (SLC25A35) NP_001307801.1:n.*521G>A
NR_135484.2:n.2035G>A (SLC25A35)