Canonical Allele Identifier: CA287553835

Gene: RANGRF SLC25A35

Linked Data

• ClinVar Variation Id: 1430927
• ClinVar RCV Id: RCV001971948
• dbSNP Id: rs900647124
• gnomAD v2: 17-8192165-T-C
• gnomAD v4: 17-8288847-T-C
• MyVariant Identifiers: chr17:g.8192165T>C (hg19) ; chr17:g.8288847T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8288847T>C , CM000679.2:g.8288847T>C	GRCh38
NC_000017.10:g.8192165T>C , CM000679.1:g.8192165T>C	GRCh37
NC_000017.9:g.8132890T>C	NCBI36
NG_028189.1:g.5197T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226105.11:c.59T>C (RANGRF) MANE Select	ENSP00000226105.6:p.Met20Thr
ENST00000226105.10:c.59T>C (RANGRF)	ENSP00000226105.6:p.Met20Thr
ENST00000380067.6:c.*769A>G (SLC25A35)	ENSP00000369407.2:n.*769A>G
ENST00000407006.8:c.59T>C (RANGRF)	ENSP00000383940.4:p.Met20Thr
ENST00000439238.3:c.59T>C (RANGRF)	ENSP00000413190.3:p.Met20Thr
ENST00000578849.1:n.149T>C (RANGRF)
ENST00000579192.5:c.*43-415A>G (SLC25A35)	ENSP00000462395.1:n.*43-415A>G
ENST00000580434.5:c.59T>C (RANGRF)	ENSP00000462310.1:p.Met20Thr
ENST00000581320.1:n.90+99A>G (SLC25A35)
NM_001177801.1:c.59T>C (RANGRF)	NP_001171272.1:p.Met20Thr
NM_001177802.1:c.59T>C (RANGRF)	NP_001171273.1:p.Met20Thr
NM_016492.4:c.59T>C (RANGRF)	NP_057576.2:p.Met20Thr
NM_201520.1:c.*769A>G (SLC25A35)	NP_958928.1:n.*769A>G
XM_005256618.3:c.59T>C (RANGRF)	XP_005256675.1:p.Met20Thr
NM_001320871.1:c.*43-415A>G (SLC25A35)	NP_001307800.1:n.*43-415A>G
NM_001330127.1:c.59T>C (RANGRF)	NP_001317056.1:p.Met20Thr
NM_201520.2:c.*769A>G (SLC25A35)	NP_958928.1:n.*769A>G
NM_016492.5:c.59T>C (RANGRF) MANE Select	NP_057576.2:p.Met20Thr
NM_001177801.2:c.59T>C (RANGRF)	NP_001171272.1:p.Met20Thr
NM_001177802.2:c.59T>C (RANGRF)	NP_001171273.1:p.Met20Thr
NM_001320871.2:c.*43-415A>G (SLC25A35)	NP_001307800.1:n.*43-415A>G
NM_001330127.2:c.59T>C (RANGRF)	NP_001317056.1:p.Met20Thr
NM_201520.3:c.*769A>G (SLC25A35)	NP_958928.1:n.*769A>G
NR_135483.2:n.2314A>G (SLC25A35)