Canonical Allele Identifier: CA8374335

Gene: RANGRF SLC25A35

Linked Data

• ClinVar Variation Id: 543067
• ClinVar RCV Id: RCV001841850 ; RCV004025913 ; RCV001766422
• dbSNP Id: rs147679793
• ExAC: 17:8192368 G / A
• gnomAD v2: 17-8192368-G-A
• gnomAD v3: 17-8289050-G-A
• gnomAD v4: 17-8289050-G-A
• MyVariant Identifiers: chr17:g.8192368G>A (hg19) ; chr17:g.8289050G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8289050G>A , CM000679.2:g.8289050G>A	GRCh38
NC_000017.10:g.8192368G>A , CM000679.1:g.8192368G>A	GRCh37
NC_000017.9:g.8133093G>A	NCBI36
NG_028189.1:g.5400G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226105.11:c.172G>A (RANGRF) MANE Select	ENSP00000226105.6:p.Val58Ile
ENST00000226105.10:c.172G>A (RANGRF)	ENSP00000226105.6:p.Val58Ile
ENST00000380067.6:c.*566C>T (SLC25A35)	ENSP00000369407.2:n.*566C>T
ENST00000407006.8:c.172G>A (RANGRF)	ENSP00000383940.4:p.Val58Ile
ENST00000439238.3:c.172G>A (RANGRF)	ENSP00000413190.3:p.Val58Ile
ENST00000578849.1:n.262G>A (RANGRF)
ENST00000579192.5:c.*42+524C>T (SLC25A35)	ENSP00000462395.1:n.*42+524C>T
ENST00000580340.5:c.*433C>T (SLC25A35)	ENSP00000464071.1:n.*433C>T
ENST00000580434.5:c.172G>A (RANGRF)	ENSP00000462310.1:p.Val58Ile
ENST00000580777.1:n.166G>A (RANGRF)
ENST00000585311.5:c.*478C>T (SLC25A35)	ENSP00000464191.1:n.*478C>T
NM_001177801.1:c.172G>A (RANGRF)	NP_001171272.1:p.Val58Ile
NM_001177802.1:c.172G>A (RANGRF)	NP_001171273.1:p.Val58Ile
NM_016492.4:c.172G>A (RANGRF)	NP_057576.2:p.Val58Ile
NM_201520.1:c.*566C>T (SLC25A35)	NP_958928.1:n.*566C>T
XM_005256618.3:c.172G>A (RANGRF)	XP_005256675.1:p.Val58Ile
NM_001320871.1:c.*42+524C>T (SLC25A35)	NP_001307800.1:n.*42+524C>T
NM_001320872.1:c.*433C>T (SLC25A35)	NP_001307801.1:n.*433C>T
NM_001330127.1:c.172G>A (RANGRF)	NP_001317056.1:p.Val58Ile
NM_201520.2:c.*566C>T (SLC25A35)	NP_958928.1:n.*566C>T
NR_135484.1:n.1890C>T (SLC25A35)
NM_016492.5:c.172G>A (RANGRF) MANE Select	NP_057576.2:p.Val58Ile
NM_001177801.2:c.172G>A (RANGRF)	NP_001171272.1:p.Val58Ile
NM_001177802.2:c.172G>A (RANGRF)	NP_001171273.1:p.Val58Ile
NM_001320871.2:c.*42+524C>T (SLC25A35)	NP_001307800.1:n.*42+524C>T
NM_001330127.2:c.172G>A (RANGRF)	NP_001317056.1:p.Val58Ile
NM_201520.3:c.*566C>T (SLC25A35)	NP_958928.1:n.*566C>T
NR_135483.2:n.2111C>T (SLC25A35)
NM_001320872.2:c.*433C>T (SLC25A35)	NP_001307801.1:n.*433C>T
NR_135484.2:n.1947C>T (SLC25A35)