Canonical Allele Identifier: CA121177

Gene: POF1B

Linked Data

• ClinVar Variation Id: 10794
• ClinVar RCV Id: RCV000011541 ; RCV000626964 ; RCV000953408
• dbSNP Id: rs75398746
• ExAC: X:84563194 C / T
• gnomAD v2: X-84563194-C-T
• gnomAD v3: X-85308188-C-T
• gnomAD v4: X-85308188-C-T
• MyVariant Identifiers: chrX:g.84563194C>T (hg19) ; chrX:g.85308188C>T (hg38)
• PubMed: PMID:16773570 ; PMID:25333069

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85308188C>T , CM000685.2:g.85308188C>T	GRCh38
NC_000023.10:g.84563194C>T , CM000685.1:g.84563194C>T	GRCh37
NC_000023.9:g.84449850C>T	NCBI36
NG_016358.1:g.76555G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262753.9:c.986G>A MANE Select	ENSP00000262753.4:p.Arg329Gln
ENST00000262753.8:c.986G>A	ENSP00000262753.4:p.Arg329Gln
ENST00000373145.3:c.986G>A	ENSP00000362238.3:p.Arg329Gln
NM_001307940.1:c.986G>A	NP_001294869.1:p.Arg329Gln
NM_024921.3:c.986G>A	NP_079197.3:p.Arg329Gln
XM_005262203.2:c.941G>A	XP_005262260.1:p.Arg314Gln
XM_005262203.4:c.941G>A	XP_005262260.1:p.Arg314Gln
NM_024921.4:c.986G>A MANE Select	NP_079197.3:p.Arg329Gln
NM_001307940.2:c.986G>A	NP_001294869.1:p.Arg329Gln