Canonical Allele Identifier: CA397994404

Gene: RANGRF SLC25A35

Linked Data

• ClinVar Variation Id: 2047768
• ClinVar RCV Id: RCV002918291
• dbSNP Id: rs1990264812
• MyVariant Identifiers: chr17:g.8192375G>A (hg19) ; chr17:g.8289057G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8289057G>A , CM000679.2:g.8289057G>A	GRCh38
NC_000017.10:g.8192375G>A , CM000679.1:g.8192375G>A	GRCh37
NC_000017.9:g.8133100G>A	NCBI36
NG_028189.1:g.5407G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226105.11:c.179G>A (RANGRF) MANE Select	ENSP00000226105.6:p.Gly60Asp
ENST00000226105.10:c.179G>A (RANGRF)	ENSP00000226105.6:p.Gly60Asp
ENST00000380067.6:c.*559C>T (SLC25A35)	ENSP00000369407.2:n.*559C>T
ENST00000407006.8:c.179G>A (RANGRF)	ENSP00000383940.4:p.Gly60Asp
ENST00000439238.3:c.179G>A (RANGRF)	ENSP00000413190.3:p.Gly60Asp
ENST00000578849.1:n.269G>A (RANGRF)
ENST00000579192.5:c.*42+517C>T (SLC25A35)	ENSP00000462395.1:n.*42+517C>T
ENST00000580340.5:c.*426C>T (SLC25A35)	ENSP00000464071.1:n.*426C>T
ENST00000580434.5:c.179G>A (RANGRF)	ENSP00000462310.1:p.Gly60Asp
ENST00000580777.1:n.173G>A (RANGRF)
ENST00000585311.5:c.*471C>T (SLC25A35)	ENSP00000464191.1:n.*471C>T
NM_001177801.1:c.179G>A (RANGRF)	NP_001171272.1:p.Gly60Asp
NM_001177802.1:c.179G>A (RANGRF)	NP_001171273.1:p.Gly60Asp
NM_016492.4:c.179G>A (RANGRF)	NP_057576.2:p.Gly60Asp
NM_201520.1:c.*559C>T (SLC25A35)	NP_958928.1:n.*559C>T
XM_005256618.3:c.179G>A (RANGRF)	XP_005256675.1:p.Gly60Asp
NM_001320871.1:c.*42+517C>T (SLC25A35)	NP_001307800.1:n.*42+517C>T
NM_001320872.1:c.*426C>T (SLC25A35)	NP_001307801.1:n.*426C>T
NM_001330127.1:c.179G>A (RANGRF)	NP_001317056.1:p.Gly60Asp
NM_201520.2:c.*559C>T (SLC25A35)	NP_958928.1:n.*559C>T
NR_135484.1:n.1883C>T (SLC25A35)
NM_016492.5:c.179G>A (RANGRF) MANE Select	NP_057576.2:p.Gly60Asp
NM_001177801.2:c.179G>A (RANGRF)	NP_001171272.1:p.Gly60Asp
NM_001177802.2:c.179G>A (RANGRF)	NP_001171273.1:p.Gly60Asp
NM_001320871.2:c.*42+517C>T (SLC25A35)	NP_001307800.1:n.*42+517C>T
NM_001330127.2:c.179G>A (RANGRF)	NP_001317056.1:p.Gly60Asp
NM_201520.3:c.*559C>T (SLC25A35)	NP_958928.1:n.*559C>T
NR_135483.2:n.2104C>T (SLC25A35)
NM_001320872.2:c.*426C>T (SLC25A35)	NP_001307801.1:n.*426C>T
NR_135484.2:n.1940C>T (SLC25A35)