Canonical Allele Identifier: CA397994093

Gene: RANGRF SLC25A35

Linked Data

• gnomAD v3: 17-8289002-G-C
• gnomAD v4: 17-8289002-G-C
• MyVariant Identifiers: chr17:g.8192320G>C (hg19) ; chr17:g.8289002G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8289002G>C , CM000679.2:g.8289002G>C	GRCh38
NC_000017.10:g.8192320G>C , CM000679.1:g.8192320G>C	GRCh37
NC_000017.9:g.8133045G>C	NCBI36
NG_028189.1:g.5352G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226105.11:c.124G>C (RANGRF) MANE Select	ENSP00000226105.6:p.Val42Leu
ENST00000226105.10:c.124G>C (RANGRF)	ENSP00000226105.6:p.Val42Leu
ENST00000380067.6:c.*614C>G (SLC25A35)	ENSP00000369407.2:n.*614C>G
ENST00000407006.8:c.124G>C (RANGRF)	ENSP00000383940.4:p.Val42Leu
ENST00000439238.3:c.124G>C (RANGRF)	ENSP00000413190.3:p.Val42Leu
ENST00000578849.1:n.214G>C (RANGRF)
ENST00000579192.5:c.*43-570C>G (SLC25A35)	ENSP00000462395.1:n.*43-570C>G
ENST00000580340.5:c.*481C>G (SLC25A35)	ENSP00000464071.1:n.*481C>G
ENST00000580434.5:c.124G>C (RANGRF)	ENSP00000462310.1:p.Val42Leu
ENST00000580777.1:n.118G>C (RANGRF)
ENST00000581320.1:n.34C>G (SLC25A35)
ENST00000585311.5:c.*526C>G (SLC25A35)	ENSP00000464191.1:n.*526C>G
NM_001177801.1:c.124G>C (RANGRF)	NP_001171272.1:p.Val42Leu
NM_001177802.1:c.124G>C (RANGRF)	NP_001171273.1:p.Val42Leu
NM_016492.4:c.124G>C (RANGRF)	NP_057576.2:p.Val42Leu
NM_201520.1:c.*614C>G (SLC25A35)	NP_958928.1:n.*614C>G
XM_005256618.3:c.124G>C (RANGRF)	XP_005256675.1:p.Val42Leu
NM_001320871.1:c.*43-570C>G (SLC25A35)	NP_001307800.1:n.*43-570C>G
NM_001320872.1:c.*481C>G (SLC25A35)	NP_001307801.1:n.*481C>G
NM_001330127.1:c.124G>C (RANGRF)	NP_001317056.1:p.Val42Leu
NM_201520.2:c.*614C>G (SLC25A35)	NP_958928.1:n.*614C>G
NR_135484.1:n.1938C>G (SLC25A35)
NM_016492.5:c.124G>C (RANGRF) MANE Select	NP_057576.2:p.Val42Leu
NM_001177801.2:c.124G>C (RANGRF)	NP_001171272.1:p.Val42Leu
NM_001177802.2:c.124G>C (RANGRF)	NP_001171273.1:p.Val42Leu
NM_001320871.2:c.*43-570C>G (SLC25A35)	NP_001307800.1:n.*43-570C>G
NM_001330127.2:c.124G>C (RANGRF)	NP_001317056.1:p.Val42Leu
NM_201520.3:c.*614C>G (SLC25A35)	NP_958928.1:n.*614C>G
NR_135483.2:n.2159C>G (SLC25A35)
NM_001320872.2:c.*481C>G (SLC25A35)	NP_001307801.1:n.*481C>G
NR_135484.2:n.1995C>G (SLC25A35)