Canonical Allele Identifier: CA8374329

Gene: RANGRF SLC25A35

Linked Data

• ClinVar Variation Id: 3151481
• ClinVar RCV Id: RCV004445870
• dbSNP Id: rs762555619
• ExAC: 17:8192354 A / G
• gnomAD v2: 17-8192354-A-G
• gnomAD v3: 17-8289036-A-G
• gnomAD v4: 17-8289036-A-G
• MyVariant Identifiers: chr17:g.8192354A>G (hg19) ; chr17:g.8289036A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8289036A>G , CM000679.2:g.8289036A>G	GRCh38
NC_000017.10:g.8192354A>G , CM000679.1:g.8192354A>G	GRCh37
NC_000017.9:g.8133079A>G	NCBI36
NG_028189.1:g.5386A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226105.11:c.158A>G (RANGRF) MANE Select	ENSP00000226105.6:p.Glu53Gly
ENST00000226105.10:c.158A>G (RANGRF)	ENSP00000226105.6:p.Glu53Gly
ENST00000380067.6:c.*580T>C (SLC25A35)	ENSP00000369407.2:n.*580T>C
ENST00000407006.8:c.158A>G (RANGRF)	ENSP00000383940.4:p.Glu53Gly
ENST00000439238.3:c.158A>G (RANGRF)	ENSP00000413190.3:p.Glu53Gly
ENST00000578849.1:n.248A>G (RANGRF)
ENST00000579192.5:c.*42+538T>C (SLC25A35)	ENSP00000462395.1:n.*42+538T>C
ENST00000580340.5:c.*447T>C (SLC25A35)	ENSP00000464071.1:n.*447T>C
ENST00000580434.5:c.158A>G (RANGRF)	ENSP00000462310.1:p.Glu53Gly
ENST00000580777.1:n.152A>G (RANGRF)
ENST00000585311.5:c.*492T>C (SLC25A35)	ENSP00000464191.1:n.*492T>C
NM_001177801.1:c.158A>G (RANGRF)	NP_001171272.1:p.Glu53Gly
NM_001177802.1:c.158A>G (RANGRF)	NP_001171273.1:p.Glu53Gly
NM_016492.4:c.158A>G (RANGRF)	NP_057576.2:p.Glu53Gly
NM_201520.1:c.*580T>C (SLC25A35)	NP_958928.1:n.*580T>C
XM_005256618.3:c.158A>G (RANGRF)	XP_005256675.1:p.Glu53Gly
NM_001320871.1:c.*42+538T>C (SLC25A35)	NP_001307800.1:n.*42+538T>C
NM_001320872.1:c.*447T>C (SLC25A35)	NP_001307801.1:n.*447T>C
NM_001330127.1:c.158A>G (RANGRF)	NP_001317056.1:p.Glu53Gly
NM_201520.2:c.*580T>C (SLC25A35)	NP_958928.1:n.*580T>C
NR_135484.1:n.1904T>C (SLC25A35)
NM_016492.5:c.158A>G (RANGRF) MANE Select	NP_057576.2:p.Glu53Gly
NM_001177801.2:c.158A>G (RANGRF)	NP_001171272.1:p.Glu53Gly
NM_001177802.2:c.158A>G (RANGRF)	NP_001171273.1:p.Glu53Gly
NM_001320871.2:c.*42+538T>C (SLC25A35)	NP_001307800.1:n.*42+538T>C
NM_001330127.2:c.158A>G (RANGRF)	NP_001317056.1:p.Glu53Gly
NM_201520.3:c.*580T>C (SLC25A35)	NP_958928.1:n.*580T>C
NR_135483.2:n.2125T>C (SLC25A35)
NM_001320872.2:c.*447T>C (SLC25A35)	NP_001307801.1:n.*447T>C
NR_135484.2:n.1961T>C (SLC25A35)