Canonical Allele Identifier: CA381004993
Gene: SLC22A24 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.63080935T>C
GRCh37 chr11:g.62848407T>C
Revel Score:
ENST00000417740 0.371
gnomAD v2:
11:62848407 T / C
gnomAD v4:
chr11-63080935-T-C
Joint Max Group AF 0.00006321 (NFE)
Exomes Max Group AF 0.00006719 (NFE)
ClinVar Allele:
2198248
ClinVar RCV:
RCV004079826
ClinVar Variation:
2212211
dbSNP:
1288177039
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.63080935T>C , CM000673.2:g.63080935T>C GRCh38
NC_000011.9:g.62848407T>C , CM000673.1:g.62848407T>C GRCh37
NC_000011.8:g.62604983T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000417740.5:c.1583A>G ENSP00000396586.1:p.Gln528Arg
ENST00000612278.4:c.1583A>G MANE Select ENSP00000480336.1:p.Gln528Arg
NM_001136506.2:c.1583A>G MANE Select NP_001129978.2:p.Gln528Arg
XM_011544964.1:c.1071-935A>G XP_011543266.1:n.1071-935A>G
XM_011544965.1:c.1071-938A>G XP_011543267.1:n.1071-938A>G
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