Canonical Allele Identifier: CA8374348

Gene: RANGRF SLC25A35

Linked Data

• ClinVar Variation Id: 392548
• ClinVar RCV Id: RCV000443759 ; RCV002063640
• dbSNP Id: rs373083572
• ExAC: 17:8192403 C / T
• gnomAD v2: 17-8192403-C-T
• gnomAD v3: 17-8289085-C-T
• gnomAD v4: 17-8289085-C-T
• MyVariant Identifiers: chr17:g.8192403C>T (hg19) ; chr17:g.8289085C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8289085C>T , CM000679.2:g.8289085C>T	GRCh38
NC_000017.10:g.8192403C>T , CM000679.1:g.8192403C>T	GRCh37
NC_000017.9:g.8133128C>T	NCBI36
NG_028189.1:g.5435C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226105.11:c.194+13C>T (RANGRF) MANE Select	ENSP00000226105.6:n.194+13C>T
ENST00000226105.10:c.194+13C>T (RANGRF)	ENSP00000226105.6:n.194+13C>T
ENST00000380067.6:c.*531G>A (SLC25A35)	ENSP00000369407.2:n.*531G>A
ENST00000407006.8:c.194+13C>T (RANGRF)	ENSP00000383940.4:n.194+13C>T
ENST00000439238.3:c.194+13C>T (RANGRF)	ENSP00000413190.3:n.194+13C>T
ENST00000578849.1:n.297C>T (RANGRF)
ENST00000579192.5:c.*42+489G>A (SLC25A35)	ENSP00000462395.1:n.*42+489G>A
ENST00000580340.5:c.*398G>A (SLC25A35)	ENSP00000464071.1:n.*398G>A
ENST00000580434.5:c.194+13C>T (RANGRF)	ENSP00000462310.1:n.194+13C>T
ENST00000580777.1:n.188+13C>T (RANGRF)
ENST00000585311.5:c.*443G>A (SLC25A35)	ENSP00000464191.1:n.*443G>A
NM_001177801.1:c.194+13C>T (RANGRF)	NP_001171272.1:n.194+13C>T
NM_001177802.1:c.194+13C>T (RANGRF)	NP_001171273.1:n.194+13C>T
NM_016492.4:c.194+13C>T (RANGRF)	NP_057576.2:n.194+13C>T
NM_201520.1:c.*531G>A (SLC25A35)	NP_958928.1:n.*531G>A
XM_005256618.3:c.194+13C>T (RANGRF)	XP_005256675.1:n.194+13C>T
NM_001320871.1:c.*42+489G>A (SLC25A35)	NP_001307800.1:n.*42+489G>A
NM_001320872.1:c.*398G>A (SLC25A35)	NP_001307801.1:n.*398G>A
NM_001330127.1:c.194+13C>T (RANGRF)	NP_001317056.1:n.194+13C>T
NM_201520.2:c.*531G>A (SLC25A35)	NP_958928.1:n.*531G>A
NR_135484.1:n.1855G>A (SLC25A35)
NM_016492.5:c.194+13C>T (RANGRF) MANE Select	NP_057576.2:n.194+13C>T
NM_001177801.2:c.194+13C>T (RANGRF)	NP_001171272.1:n.194+13C>T
NM_001177802.2:c.194+13C>T (RANGRF)	NP_001171273.1:n.194+13C>T
NM_001320871.2:c.*42+489G>A (SLC25A35)	NP_001307800.1:n.*42+489G>A
NM_001330127.2:c.194+13C>T (RANGRF)	NP_001317056.1:n.194+13C>T
NM_201520.3:c.*531G>A (SLC25A35)	NP_958928.1:n.*531G>A
NR_135483.2:n.2076G>A (SLC25A35)
NM_001320872.2:c.*398G>A (SLC25A35)	NP_001307801.1:n.*398G>A
NR_135484.2:n.1912G>A (SLC25A35)