Canonical Allele Identifier: CA14496142

Gene: RANGRF SLC25A35

Linked Data

• ClinVar Variation Id: 1224078
• ClinVar RCV Id: RCV001594593
• dbSNP Id: rs111476121
• gnomAD v2: 17-8191938-C-T
• gnomAD v3: 17-8288620-C-T
• gnomAD v4: 17-8288620-C-T
• MyVariant Identifiers: chr17:g.8191938C>T (hg19) ; chr17:g.8288620C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8288620C>T , CM000679.2:g.8288620C>T	GRCh38
NC_000017.10:g.8191938C>T , CM000679.1:g.8191938C>T	GRCh37
NC_000017.9:g.8132663C>T	NCBI36
NG_028189.1:g.4970C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226105.10:c.-169C>T (RANGRF)	ENSP00000226105.6:n.-169C>T
ENST00000380067.6:c.*996G>A (SLC25A35)	ENSP00000369407.2:n.*996G>A
ENST00000579192.5:c.*43-188G>A (SLC25A35)	ENSP00000462395.1:n.*43-188G>A
ENST00000581320.1:n.91-188G>A (SLC25A35)
NM_201520.1:c.*996G>A (SLC25A35)	NP_958928.1:n.*996G>A
XM_005256618.3:c.-169C>T (RANGRF)	XP_005256675.1:n.-169C>T
NM_001320871.1:c.*43-188G>A (SLC25A35)	NP_001307800.1:n.*43-188G>A
NM_001330127.1:c.-169C>T (RANGRF)	NP_001317056.1:n.-169C>T
NM_201520.2:c.*996G>A (SLC25A35)	NP_958928.1:n.*996G>A
NM_001320871.2:c.*43-188G>A (SLC25A35)	NP_001307800.1:n.*43-188G>A
NM_201520.3:c.*996G>A (SLC25A35)	NP_958928.1:n.*996G>A
NR_135483.2:n.2541G>A (SLC25A35)