Canonical Allele Identifier: CA16607191
Gene: PAFAH1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 379162
dbSNP Id: rs1057520515

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2680321G>A , CM000679.2:g.2680321G>A GRCh38
NC_000017.10:g.2583615G>A , CM000679.1:g.2583615G>A GRCh37
NC_000017.9:g.2530365G>A NCBI36
NG_009799.1:g.91693G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000397195.10:c.1159+1G>A MANE Select ENSP00000380378.4:n.1159+1G>A
ENST00000571495.2:n.2244+1G>A
ENST00000610190.2:n.711+1G>A
ENST00000674608.1:c.1213+1G>A ENSP00000501976.1:n.1213+1G>A
ENST00000674717.1:c.964+1G>A ENSP00000501931.1:n.964+1G>A
ENST00000675084.1:n.414G>A
ENST00000675202.1:c.1159+1G>A ENSP00000502843.1:n.1159+1G>A
ENST00000675331.1:c.1159+1G>A ENSP00000502031.1:n.1159+1G>A
ENST00000675385.1:n.773+1G>A
ENST00000675390.1:c.1159+1G>A ENSP00000501969.1:n.1159+1G>A
ENST00000675574.1:n.4214+1G>A
ENST00000675621.1:c.*86-1408G>A ENSP00000502117.1:n.*86-1408G>A
ENST00000675764.1:c.*1113+1G>A ENSP00000502242.1:n.*1113+1G>A
ENST00000676077.1:c.*477+1G>A ENSP00000502507.1:n.*477+1G>A
ENST00000676098.1:c.1159+1G>A ENSP00000502735.1:n.1159+1G>A
ENST00000676188.1:c.1159+1G>A ENSP00000502577.1:n.1159+1G>A
ENST00000676353.1:c.964+1G>A ENSP00000502737.1:n.964+1G>A
ENST00000397193.7:n.967+1G>A
ENST00000397195.9:c.1159+1G>A ENSP00000380378.4:n.1159+1G>A
ENST00000571495.1:n.883+1G>A
ENST00000572915.6:n.677-3267G>A
ENST00000574468.1:c.553+1G>A ENSP00000460591.1:n.553+1G>A
ENST00000574816.5:n.480+1G>A
ENST00000610190.1:n.634+1G>A
NM_000430.3:c.1159+1G>A NP_000421.1:n.1159+1G>A
XM_011523901.1:c.1213+1G>A XP_011522203.1:n.1213+1G>A
XM_011523902.1:c.1213+1G>A XP_011522204.1:n.1213+1G>A
XM_011523903.1:c.1213+1G>A XP_011522205.1:n.1213+1G>A
XM_011523901.2:c.1213+1G>A XP_011522203.1:n.1213+1G>A
XM_011523902.3:c.1213+1G>A XP_011522204.1:n.1213+1G>A
XM_011523903.2:c.1213+1G>A XP_011522205.1:n.1213+1G>A
XM_017024701.1:c.1159+1G>A XP_016880190.1:n.1159+1G>A
XM_017024702.2:c.964+1G>A XP_016880191.1:n.964+1G>A
NM_000430.4:c.1159+1G>A MANE Select NP_000421.1:n.1159+1G>A