Canonical Allele Identifier: CA392870491
Gene: SLC51B HGNC NCBI
RASL12 HGNC NCBI
ClinVar RCV:
RCV002852505
ClinVar Variation:
2022466
gnomAD v4:
chr15-65050024-C-T
MyVariant.info:
GRCh38 chr15:g.65050024C>T
GRCh37 chr15:g.65342362C>T
Revel Score:
ENST00000334287 (MANE Select) 0.034
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65050024C>T , CM000677.2:g.65050024C>T GRCh38
NC_000015.9:g.65342362C>T , CM000677.1:g.65342362C>T GRCh37
NC_000015.8:g.63129415C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000334287.3:c.20C>T (SLC51B) MANE Select ENSP00000335292.2:p.Ala7Val
ENST00000334287.2:c.20C>T (SLC51B) ENSP00000335292.2:p.Ala7Val
NM_178859.3:c.20C>T (SLC51B) NP_849190.2:p.Ala7Val
XM_005254159.3:c.20C>T (SLC51B) XP_005254216.1:p.Ala7Val
XM_005254434.3:c.426-4280G>A (RASL12) XP_005254491.1:n.426-4280G>A
XM_005254159.5:c.20C>T (SLC51B) XP_005254216.1:p.Ala7Val
XM_005254434.4:c.426-4280G>A (RASL12) XP_005254491.1:n.426-4280G>A
NM_178859.4:c.20C>T (SLC51B) MANE Select NP_849190.2:p.Ala7Val
Search 100 bp 5'
Search 100 bp 3'