Canonical Allele Identifier: CA254311
Gene: PAFAH1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8073
ClinVar RCV Id: RCV000008540 RCV002512912
dbSNP Id: rs121434482
MyVariant Identifiers: chr17:g.2573503A>G (hg19) chr17:g.2670209A>G (hg38)
PubMed: PMID:9063735 PMID:11502906
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2670209A>G , CM000679.2:g.2670209A>G GRCh38
NC_000017.10:g.2573503A>G , CM000679.1:g.2573503A>G GRCh37
NC_000017.9:g.2520253A>G NCBI36
NG_009799.1:g.81581A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000397195.10:c.446A>G MANE Select ENSP00000380378.4:p.His149Arg
ENST00000674608.1:c.500A>G ENSP00000501976.1:p.His167Arg
ENST00000674717.1:c.251A>G ENSP00000501931.1:p.His84Arg
ENST00000675202.1:c.446A>G ENSP00000502843.1:p.His149Arg
ENST00000675331.1:c.446A>G ENSP00000502031.1:p.His149Arg
ENST00000675390.1:c.446A>G ENSP00000501969.1:p.His149Arg
ENST00000675430.1:n.673A>G
ENST00000675621.1:c.446A>G ENSP00000502117.1:p.His149Arg
ENST00000675764.1:c.*400A>G ENSP00000502242.1:n.*400A>G
ENST00000676077.1:c.251A>G ENSP00000502507.1:p.His84Arg
ENST00000676098.1:c.446A>G ENSP00000502735.1:p.His149Arg
ENST00000676188.1:c.446A>G ENSP00000502577.1:p.His149Arg
ENST00000676201.1:n.600A>G
ENST00000676353.1:c.251A>G ENSP00000502737.1:p.His84Arg
ENST00000676456.1:n.551A>G
ENST00000397193.7:n.254A>G
ENST00000397195.9:c.446A>G ENSP00000380378.4:p.His149Arg
ENST00000572915.6:n.480-66A>G
ENST00000574816.5:n.31-6105A>G
ENST00000609078.1:n.405A>G
NM_000430.3:c.446A>G NP_000421.1:p.His149Arg
XM_011523901.1:c.500A>G XP_011522203.1:p.His167Arg
XM_011523902.1:c.500A>G XP_011522204.1:p.His167Arg
XM_011523903.1:c.500A>G XP_011522205.1:p.His167Arg
XM_011523904.1:c.500A>G XP_011522206.1:p.His167Arg
XM_011523901.2:c.500A>G XP_011522203.1:p.His167Arg
XM_011523902.3:c.500A>G XP_011522204.1:p.His167Arg
XM_011523903.2:c.500A>G XP_011522205.1:p.His167Arg
XM_017024701.1:c.446A>G XP_016880190.1:p.His149Arg
XM_017024702.2:c.251A>G XP_016880191.1:p.His84Arg
NM_000430.4:c.446A>G MANE Select NP_000421.1:p.His149Arg
Search 100 bp 5'
Search 100 bp 3'