Canonical Allele Identifier: CA271519348
Gene: SLC51B HGNC NCBI
RASL12 HGNC NCBI
ClinVar RCV:
RCV003085672
ClinVar Variation:
2153457
dbSNP:
370875524
gnomAD v2:
15:65342385 G / T
gnomAD v3:
15:65050047 G / T
gnomAD v4:
chr15-65050047-G-T
Joint Max Group AF 0.00000254 (NFE)
Exomes Max Group AF 0.000002 (NFE)
MyVariant.info:
GRCh38 chr15:g.65050047G>T
GRCh37 chr15:g.65342385G>T
Revel Score:
ENST00000334287 (MANE Select) 0.028
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65050047G>T , CM000677.2:g.65050047G>T GRCh38
NC_000015.9:g.65342385G>T , CM000677.1:g.65342385G>T GRCh37
NC_000015.8:g.63129438G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000334287.3:c.43G>T (SLC51B) MANE Select ENSP00000335292.2:p.Val15Leu
ENST00000334287.2:c.43G>T (SLC51B) ENSP00000335292.2:p.Val15Leu
NM_178859.3:c.43G>T (SLC51B) NP_849190.2:p.Val15Leu
XM_005254159.3:c.43G>T (SLC51B) XP_005254216.1:p.Val15Leu
XM_005254434.3:c.426-4303C>A (RASL12) XP_005254491.1:n.426-4303C>A
XM_005254159.5:c.43G>T (SLC51B) XP_005254216.1:p.Val15Leu
XM_005254434.4:c.426-4303C>A (RASL12) XP_005254491.1:n.426-4303C>A
NM_178859.4:c.43G>T (SLC51B) MANE Select NP_849190.2:p.Val15Leu
Search 100 bp 5'
Search 100 bp 3'