Canonical Allele Identifier: CA412307276
Gene: PRKX HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.3615853A>T
GRCh37 chrX:g.3533894A>T
Revel Score:
ENST00000262848 (MANE Select) 0.038
gnomAD v2:
X:3533894 A / T
gnomAD v4:
chrX-3615853-A-T
Joint Max Group AF 0.00000105 (NFE)
Exomes Max Group AF 0.00000111 (NFE)
ClinVar RCV:
RCV004106951
ClinVar Variation:
2249271
dbSNP:
778063938
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.3615853A>T , CM000685.2:g.3615853A>T GRCh38
NC_000023.10:g.3533894A>T , CM000685.1:g.3533894A>T GRCh37
NC_000023.9:g.3543894A>T NCBI36
NG_016716.1:g.102782T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262848.6:c.913T>A MANE Select ENSP00000262848.5:p.Ser305Thr
ENST00000262848.5:c.913T>A ENSP00000262848.5:p.Ser305Thr
ENST00000425240.1:n.615T>A
NM_005044.4:c.913T>A NP_005035.1:p.Ser305Thr
XM_005274560.2:c.913T>A XP_005274617.1:p.Ser305Thr
XM_005274561.2:c.793T>A XP_005274618.1:p.Ser265Thr
XM_011545544.1:c.751T>A XP_011543846.1:p.Ser251Thr
NM_005044.5:c.913T>A MANE Select NP_005035.1:p.Ser305Thr
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