Canonical Allele Identifier: CA302117

Gene: RANGRF SLC25A35

Linked Data

• ClinVar Variation Id: 190841
• ClinVar RCV Id: RCV001711343 ; RCV001842510
• dbSNP Id: rs150856064
• ExAC: 17:8192158 C / T
• gnomAD v2: 17-8192158-C-T
• gnomAD v3: 17-8288840-C-T
• gnomAD v4: 17-8288840-C-T
• MyVariant Identifiers: chr17:g.8192158C>T (hg19) ; chr17:g.8288840C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8288840C>T , CM000679.2:g.8288840C>T	GRCh38
NC_000017.10:g.8192158C>T , CM000679.1:g.8192158C>T	GRCh37
NC_000017.9:g.8132883C>T	NCBI36
NG_028189.1:g.5190C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226105.11:c.52C>T (RANGRF) MANE Select	ENSP00000226105.6:p.Leu18Phe
ENST00000226105.10:c.52C>T (RANGRF)	ENSP00000226105.6:p.Leu18Phe
ENST00000380067.6:c.*776G>A (SLC25A35)	ENSP00000369407.2:n.*776G>A
ENST00000407006.8:c.52C>T (RANGRF)	ENSP00000383940.4:p.Leu18Phe
ENST00000439238.3:c.52C>T (RANGRF)	ENSP00000413190.3:p.Leu18Phe
ENST00000578849.1:n.142C>T (RANGRF)
ENST00000579192.5:c.*43-408G>A (SLC25A35)	ENSP00000462395.1:n.*43-408G>A
ENST00000580434.5:c.52C>T (RANGRF)	ENSP00000462310.1:p.Leu18Phe
ENST00000581320.1:n.90+106G>A (SLC25A35)
NM_001177801.1:c.52C>T (RANGRF)	NP_001171272.1:p.Leu18Phe
NM_001177802.1:c.52C>T (RANGRF)	NP_001171273.1:p.Leu18Phe
NM_016492.4:c.52C>T (RANGRF)	NP_057576.2:p.Leu18Phe
NM_201520.1:c.*776G>A (SLC25A35)	NP_958928.1:n.*776G>A
XM_005256618.3:c.52C>T (RANGRF)	XP_005256675.1:p.Leu18Phe
NM_001320871.1:c.*43-408G>A (SLC25A35)	NP_001307800.1:n.*43-408G>A
NM_001330127.1:c.52C>T (RANGRF)	NP_001317056.1:p.Leu18Phe
NM_201520.2:c.*776G>A (SLC25A35)	NP_958928.1:n.*776G>A
NM_016492.5:c.52C>T (RANGRF) MANE Select	NP_057576.2:p.Leu18Phe
NM_001177801.2:c.52C>T (RANGRF)	NP_001171272.1:p.Leu18Phe
NM_001177802.2:c.52C>T (RANGRF)	NP_001171273.1:p.Leu18Phe
NM_001320871.2:c.*43-408G>A (SLC25A35)	NP_001307800.1:n.*43-408G>A
NM_001330127.2:c.52C>T (RANGRF)	NP_001317056.1:p.Leu18Phe
NM_201520.3:c.*776G>A (SLC25A35)	NP_958928.1:n.*776G>A
NR_135483.2:n.2321G>A (SLC25A35)