Canonical Allele Identifier: CA397994194

Gene: RANGRF SLC25A35

Linked Data

• dbSNP Id: rs1243962438
• gnomAD v2: 17-8192336-T-C
• gnomAD v4: 17-8289018-T-C
• MyVariant Identifiers: chr17:g.8192336T>C (hg19) ; chr17:g.8289018T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8289018T>C , CM000679.2:g.8289018T>C	GRCh38
NC_000017.10:g.8192336T>C , CM000679.1:g.8192336T>C	GRCh37
NC_000017.9:g.8133061T>C	NCBI36
NG_028189.1:g.5368T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226105.11:c.140T>C (RANGRF) MANE Select	ENSP00000226105.6:p.Leu47Pro
ENST00000226105.10:c.140T>C (RANGRF)	ENSP00000226105.6:p.Leu47Pro
ENST00000380067.6:c.*598A>G (SLC25A35)	ENSP00000369407.2:n.*598A>G
ENST00000407006.8:c.140T>C (RANGRF)	ENSP00000383940.4:p.Leu47Pro
ENST00000439238.3:c.140T>C (RANGRF)	ENSP00000413190.3:p.Leu47Pro
ENST00000578849.1:n.230T>C (RANGRF)
ENST00000579192.5:c.*42+556A>G (SLC25A35)	ENSP00000462395.1:n.*42+556A>G
ENST00000580340.5:c.*465A>G (SLC25A35)	ENSP00000464071.1:n.*465A>G
ENST00000580434.5:c.140T>C (RANGRF)	ENSP00000462310.1:p.Leu47Pro
ENST00000580777.1:n.134T>C (RANGRF)
ENST00000581320.1:n.18A>G (SLC25A35)
ENST00000585311.5:c.*510A>G (SLC25A35)	ENSP00000464191.1:n.*510A>G
NM_001177801.1:c.140T>C (RANGRF)	NP_001171272.1:p.Leu47Pro
NM_001177802.1:c.140T>C (RANGRF)	NP_001171273.1:p.Leu47Pro
NM_016492.4:c.140T>C (RANGRF)	NP_057576.2:p.Leu47Pro
NM_201520.1:c.*598A>G (SLC25A35)	NP_958928.1:n.*598A>G
XM_005256618.3:c.140T>C (RANGRF)	XP_005256675.1:p.Leu47Pro
NM_001320871.1:c.*42+556A>G (SLC25A35)	NP_001307800.1:n.*42+556A>G
NM_001320872.1:c.*465A>G (SLC25A35)	NP_001307801.1:n.*465A>G
NM_001330127.1:c.140T>C (RANGRF)	NP_001317056.1:p.Leu47Pro
NM_201520.2:c.*598A>G (SLC25A35)	NP_958928.1:n.*598A>G
NR_135484.1:n.1922A>G (SLC25A35)
NM_016492.5:c.140T>C (RANGRF) MANE Select	NP_057576.2:p.Leu47Pro
NM_001177801.2:c.140T>C (RANGRF)	NP_001171272.1:p.Leu47Pro
NM_001177802.2:c.140T>C (RANGRF)	NP_001171273.1:p.Leu47Pro
NM_001320871.2:c.*42+556A>G (SLC25A35)	NP_001307800.1:n.*42+556A>G
NM_001330127.2:c.140T>C (RANGRF)	NP_001317056.1:p.Leu47Pro
NM_201520.3:c.*598A>G (SLC25A35)	NP_958928.1:n.*598A>G
NR_135483.2:n.2143A>G (SLC25A35)
NM_001320872.2:c.*465A>G (SLC25A35)	NP_001307801.1:n.*465A>G
NR_135484.2:n.1979A>G (SLC25A35)