Canonical Allele Identifier: CA727483701
Gene: PAFAH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1233252947
gnomAD v4: 17-2676437-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2676437A>G , CM000679.2:g.2676437A>G GRCh38
NC_000017.10:g.2579731A>G , CM000679.1:g.2579731A>G GRCh37
NC_000017.9:g.2526481A>G NCBI36
NG_009799.1:g.87809A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000397195.10:c.901-68A>G MANE Select ENSP00000380378.4:n.901-68A>G
ENST00000571495.2:n.1986-68A>G
ENST00000674608.1:c.955-68A>G ENSP00000501976.1:n.955-68A>G
ENST00000674717.1:c.706-68A>G ENSP00000501931.1:n.706-68A>G
ENST00000675084.1:n.87A>G
ENST00000675202.1:c.901-68A>G ENSP00000502843.1:n.901-68A>G
ENST00000675331.1:c.901-68A>G ENSP00000502031.1:n.901-68A>G
ENST00000675385.1:n.447A>G
ENST00000675390.1:c.901-68A>G ENSP00000501969.1:n.901-68A>G
ENST00000675574.1:n.3888A>G
ENST00000675621.1:c.901-68A>G ENSP00000502117.1:n.901-68A>G
ENST00000675764.1:c.*855-68A>G ENSP00000502242.1:n.*855-68A>G
ENST00000676077.1:c.*219-68A>G ENSP00000502507.1:n.*219-68A>G
ENST00000676098.1:c.901-68A>G ENSP00000502735.1:n.901-68A>G
ENST00000676188.1:c.901-68A>G ENSP00000502577.1:n.901-68A>G
ENST00000676353.1:c.706-68A>G ENSP00000502737.1:n.706-68A>G
ENST00000397193.7:n.709-68A>G
ENST00000397195.9:c.901-68A>G ENSP00000380378.4:n.901-68A>G
ENST00000571495.1:n.625-68A>G
ENST00000572915.6:n.676+2341A>G
ENST00000574468.1:c.396+2149A>G ENSP00000460591.1:n.396+2149A>G
ENST00000574816.5:n.154A>G
NM_000430.3:c.901-68A>G NP_000421.1:n.901-68A>G
XM_011523901.1:c.955-68A>G XP_011522203.1:n.955-68A>G
XM_011523902.1:c.955-68A>G XP_011522204.1:n.955-68A>G
XM_011523903.1:c.955-68A>G XP_011522205.1:n.955-68A>G
XM_011523901.2:c.955-68A>G XP_011522203.1:n.955-68A>G
XM_011523902.3:c.955-68A>G XP_011522204.1:n.955-68A>G
XM_011523903.2:c.955-68A>G XP_011522205.1:n.955-68A>G
XM_017024701.1:c.901-68A>G XP_016880190.1:n.901-68A>G
XM_017024702.2:c.706-68A>G XP_016880191.1:n.706-68A>G
NM_000430.4:c.901-68A>G MANE Select NP_000421.1:n.901-68A>G