Canonical Allele Identifier: CA7545842
Gene: SLC24A5 HGNC NCBI
COSMIC:
COSM4985159 (not active)
MyVariant.info:
GRCh38 chr15:g.48134287A>G
GRCh37 chr15:g.48426484A>G
Revel Score:
ENST00000341459 (MANE Select) 0.188
ENST00000449382 0.188
gnomAD v2:
15:48426484 A / G
gnomAD v3:
15:48134287 A / G
gnomAD v4:
chr15-48134287-A-G
Joint Max Group AF 0.98520892 (EAS)
Genomes Max Group AF 0.96198922 (EAS)
Exomes Max Group AF 0.98580984 (EAS)
ClinVar RCV:
RCV000250857
RCV001723865
ClinVar Variation:
263273
dbSNP:
1426654
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48134287A>G , CM000677.2:g.48134287A>G GRCh38
NC_000015.9:g.48426484A>G , CM000677.1:g.48426484A>G GRCh37
NC_000015.8:g.46213776A>G NCBI36
NG_011500.1:g.18316A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341459.8:c.331A>G MANE Select ENSP00000341550.3:p.Thr111Ala
ENST00000341459.7:c.331A>G ENSP00000341550.3:p.Thr111Ala
ENST00000449382.2:c.151A>G ENSP00000389966.2:p.Thr51Ala
ENST00000463289.1:n.91A>G
NM_205850.2:c.331A>G NP_995322.1:p.Thr111Ala
XM_011521458.1:c.331A>G XP_011519760.1:p.Thr111Ala
XM_017022079.1:c.-9A>G XP_016877568.1:n.-9A>G
XM_017022080.1:c.-9A>G XP_016877569.1:n.-9A>G
XM_024449901.1:c.-9A>G XP_024305669.1:n.-9A>G
NM_205850.3:c.331A>G MANE Select NP_995322.1:p.Thr111Ala
Search 100 bp 5'
Search 100 bp 3'