Canonical Allele Identifier: CA14496143

Gene: RANGRF SLC25A35

Linked Data

• ClinVar Variation Id: 1292115
• ClinVar RCV Id: RCV001714281
• dbSNP Id: rs113617815
• gnomAD v2: 17-8191951-A-G
• gnomAD v3: 17-8288633-A-G
• gnomAD v4: 17-8288633-A-G
• MyVariant Identifiers: chr17:g.8191951A>G (hg19) ; chr17:g.8288633A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8288633A>G , CM000679.2:g.8288633A>G	GRCh38
NC_000017.10:g.8191951A>G , CM000679.1:g.8191951A>G	GRCh37
NC_000017.9:g.8132676A>G	NCBI36
NG_028189.1:g.4983A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226105.10:c.-156A>G (RANGRF)	ENSP00000226105.6:n.-156A>G
ENST00000380067.6:c.*983T>C (SLC25A35)	ENSP00000369407.2:n.*983T>C
ENST00000579192.5:c.*43-201T>C (SLC25A35)	ENSP00000462395.1:n.*43-201T>C
ENST00000581320.1:n.91-201T>C (SLC25A35)
NM_201520.1:c.*983T>C (SLC25A35)	NP_958928.1:n.*983T>C
XM_005256618.3:c.-156A>G (RANGRF)	XP_005256675.1:n.-156A>G
NM_001320871.1:c.*43-201T>C (SLC25A35)	NP_001307800.1:n.*43-201T>C
NM_001330127.1:c.-156A>G (RANGRF)	NP_001317056.1:n.-156A>G
NM_201520.2:c.*983T>C (SLC25A35)	NP_958928.1:n.*983T>C
NM_001320871.2:c.*43-201T>C (SLC25A35)	NP_001307800.1:n.*43-201T>C
NM_201520.3:c.*983T>C (SLC25A35)	NP_958928.1:n.*983T>C
NR_135483.2:n.2528T>C (SLC25A35)