Canonical Allele Identifier: CA287554121

Gene: RANGRF SLC25A35

Linked Data

• ClinVar Variation Id: 1292499
• ClinVar RCV Id: RCV001718086
• dbSNP Id: rs900678508
• gnomAD v3: 17-8289089-C-G
• gnomAD v4: 17-8289089-C-G
• MyVariant Identifiers: chr17:g.8192407C>G (hg19) ; chr17:g.8289089C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8289089C>G , CM000679.2:g.8289089C>G	GRCh38
NC_000017.10:g.8192407C>G , CM000679.1:g.8192407C>G	GRCh37
NC_000017.9:g.8133132C>G	NCBI36
NG_028189.1:g.5439C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226105.11:c.194+17C>G (RANGRF) MANE Select	ENSP00000226105.6:n.194+17C>G
ENST00000226105.10:c.194+17C>G (RANGRF)	ENSP00000226105.6:n.194+17C>G
ENST00000380067.6:c.*527G>C (SLC25A35)	ENSP00000369407.2:n.*527G>C
ENST00000407006.8:c.194+17C>G (RANGRF)	ENSP00000383940.4:n.194+17C>G
ENST00000439238.3:c.194+17C>G (RANGRF)	ENSP00000413190.3:n.194+17C>G
ENST00000578849.1:n.301C>G (RANGRF)
ENST00000579192.5:c.*42+485G>C (SLC25A35)	ENSP00000462395.1:n.*42+485G>C
ENST00000580340.5:c.*394G>C (SLC25A35)	ENSP00000464071.1:n.*394G>C
ENST00000580434.5:c.194+17C>G (RANGRF)	ENSP00000462310.1:n.194+17C>G
ENST00000580777.1:n.188+17C>G (RANGRF)
ENST00000585311.5:c.*439G>C (SLC25A35)	ENSP00000464191.1:n.*439G>C
NM_001177801.1:c.194+17C>G (RANGRF)	NP_001171272.1:n.194+17C>G
NM_001177802.1:c.194+17C>G (RANGRF)	NP_001171273.1:n.194+17C>G
NM_016492.4:c.194+17C>G (RANGRF)	NP_057576.2:n.194+17C>G
NM_201520.1:c.*527G>C (SLC25A35)	NP_958928.1:n.*527G>C
XM_005256618.3:c.194+17C>G (RANGRF)	XP_005256675.1:n.194+17C>G
NM_001320871.1:c.*42+485G>C (SLC25A35)	NP_001307800.1:n.*42+485G>C
NM_001320872.1:c.*394G>C (SLC25A35)	NP_001307801.1:n.*394G>C
NM_001330127.1:c.194+17C>G (RANGRF)	NP_001317056.1:n.194+17C>G
NM_201520.2:c.*527G>C (SLC25A35)	NP_958928.1:n.*527G>C
NR_135484.1:n.1851G>C (SLC25A35)
NM_016492.5:c.194+17C>G (RANGRF) MANE Select	NP_057576.2:n.194+17C>G
NM_001177801.2:c.194+17C>G (RANGRF)	NP_001171272.1:n.194+17C>G
NM_001177802.2:c.194+17C>G (RANGRF)	NP_001171273.1:n.194+17C>G
NM_001320871.2:c.*42+485G>C (SLC25A35)	NP_001307800.1:n.*42+485G>C
NM_001330127.2:c.194+17C>G (RANGRF)	NP_001317056.1:n.194+17C>G
NM_201520.3:c.*527G>C (SLC25A35)	NP_958928.1:n.*527G>C
NR_135483.2:n.2072G>C (SLC25A35)
NM_001320872.2:c.*394G>C (SLC25A35)	NP_001307801.1:n.*394G>C
NR_135484.2:n.1908G>C (SLC25A35)