Canonical Allele Identifier: CA2243491426
Gene: PAFAH1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2674218A= , CM000679.2:g.2674218A= GRCh38
NC_000017.10:g.2577512A= , CM000679.1:g.2577512A= GRCh37
NC_000017.9:g.2524262A= NCBI36
NG_009799.1:g.85590A=

Transcript Alleles

HGVS Amino-acid change
ENST00000397195.10:c.830A= MANE Select ENSP00000380378.4:p.His277=
ENST00000571495.2:n.1915A=
ENST00000674608.1:c.884A= ENSP00000501976.1:p.His295=
ENST00000674717.1:c.635A= ENSP00000501931.1:p.His212=
ENST00000675202.1:c.830A= ENSP00000502843.1:p.His277=
ENST00000675331.1:c.830A= ENSP00000502031.1:p.His277=
ENST00000675390.1:c.830A= ENSP00000501969.1:p.His277=
ENST00000675574.1:n.1902A=
ENST00000675621.1:c.830A= ENSP00000502117.1:p.His277=
ENST00000675764.1:c.*784A= ENSP00000502242.1:n.*784A=
ENST00000676077.1:c.*148A= ENSP00000502507.1:n.*148A=
ENST00000676098.1:c.830A= ENSP00000502735.1:p.His277=
ENST00000676188.1:c.830A= ENSP00000502577.1:p.His277=
ENST00000676353.1:c.635A= ENSP00000502737.1:p.His212=
ENST00000397193.7:n.638A=
ENST00000397195.9:c.830A= ENSP00000380378.4:p.His277=
ENST00000571495.1:n.554A=
ENST00000572915.6:n.676+122A=
ENST00000574468.1:c.326A= ENSP00000460591.1:p.His109=
ENST00000574816.5:n.31-2096A=
NM_000430.3:c.830A= NP_000421.1:p.His277=
XM_011523901.1:c.884A= XP_011522203.1:p.His295=
XM_011523902.1:c.884A= XP_011522204.1:p.His295=
XM_011523903.1:c.884A= XP_011522205.1:p.His295=
XM_011523901.2:c.884A= XP_011522203.1:p.His295=
XM_011523902.3:c.884A= XP_011522204.1:p.His295=
XM_011523903.2:c.884A= XP_011522205.1:p.His295=
XM_017024701.1:c.830A= XP_016880190.1:p.His277=
XM_017024702.2:c.635A= XP_016880191.1:p.His212=
NM_000430.4:c.830A= MANE Select NP_000421.1:p.His277=