Canonical Allele Identifier: CA10464923
Gene: POF1B HGNC NCBI

Linked Data

ClinVar Variation Id: 368782
ClinVar RCV Id: RCV000401532 RCV003950316
dbSNP Id: rs147026080
ExAC: X:84558417 A / G
gnomAD v2: X-84558417-A-G
gnomAD v3: X-85303411-A-G
gnomAD v4: X-85303411-A-G
MyVariant Identifiers: chrX:g.84558417A>G (hg19) chrX:g.85303411A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85303411A>G , CM000685.2:g.85303411A>G GRCh38
NC_000023.10:g.84558417A>G , CM000685.1:g.84558417A>G GRCh37
NC_000023.9:g.84445073A>G NCBI36
NG_016358.1:g.81332T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262753.9:c.1644T>C MANE Select ENSP00000262753.4:p.Thr548=
ENST00000262753.8:c.1644T>C ENSP00000262753.4:p.Thr548=
ENST00000373145.3:c.1644T>C ENSP00000362238.3:p.Thr548=
NM_001307940.1:c.1644T>C NP_001294869.1:p.Thr548=
NM_024921.3:c.1644T>C NP_079197.3:p.Thr548=
XM_005262203.2:c.1599T>C XP_005262260.1:p.Thr533=
XM_005262203.4:c.1599T>C XP_005262260.1:p.Thr533=
NM_024921.4:c.1644T>C MANE Select NP_079197.3:p.Thr548=
NM_001307940.2:c.1644T>C NP_001294869.1:p.Thr548=
Search 100 bp 5'
Search 100 bp 3'