Canonical Allele Identifier: CA397642315
Gene: PAFAH1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2676591G>C , CM000679.2:g.2676591G>C GRCh38
NC_000017.10:g.2579885G>C , CM000679.1:g.2579885G>C GRCh37
NC_000017.9:g.2526635G>C NCBI36
NG_009799.1:g.87963G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000397195.10:c.987G>C MANE Select ENSP00000380378.4:p.Met329Ile
ENST00000571495.2:n.2072G>C
ENST00000674608.1:c.1041G>C ENSP00000501976.1:p.Met347Ile
ENST00000674717.1:c.792G>C ENSP00000501931.1:p.Met264Ile
ENST00000675084.1:n.241G>C
ENST00000675202.1:c.987G>C ENSP00000502843.1:p.Met329Ile
ENST00000675331.1:c.987G>C ENSP00000502031.1:p.Met329Ile
ENST00000675385.1:n.601G>C
ENST00000675390.1:c.987G>C ENSP00000501969.1:p.Met329Ile
ENST00000675574.1:n.4042G>C
ENST00000675621.1:c.987G>C ENSP00000502117.1:p.Met329Ile
ENST00000675764.1:c.*941G>C ENSP00000502242.1:n.*941G>C
ENST00000676077.1:c.*305G>C ENSP00000502507.1:n.*305G>C
ENST00000676098.1:c.987G>C ENSP00000502735.1:p.Met329Ile
ENST00000676188.1:c.987G>C ENSP00000502577.1:p.Met329Ile
ENST00000676353.1:c.792G>C ENSP00000502737.1:p.Met264Ile
ENST00000397193.7:n.795G>C
ENST00000397195.9:c.987G>C ENSP00000380378.4:p.Met329Ile
ENST00000571495.1:n.711G>C
ENST00000572915.6:n.676+2495G>C
ENST00000574468.1:c.396+2303G>C ENSP00000460591.1:n.396+2303G>C
ENST00000574816.5:n.308G>C
NM_000430.3:c.987G>C NP_000421.1:p.Met329Ile
XM_011523901.1:c.1041G>C XP_011522203.1:p.Met347Ile
XM_011523902.1:c.1041G>C XP_011522204.1:p.Met347Ile
XM_011523903.1:c.1041G>C XP_011522205.1:p.Met347Ile
XM_011523901.2:c.1041G>C XP_011522203.1:p.Met347Ile
XM_011523902.3:c.1041G>C XP_011522204.1:p.Met347Ile
XM_011523903.2:c.1041G>C XP_011522205.1:p.Met347Ile
XM_017024701.1:c.987G>C XP_016880190.1:p.Met329Ile
XM_017024702.2:c.792G>C XP_016880191.1:p.Met264Ile
NM_000430.4:c.987G>C MANE Select NP_000421.1:p.Met329Ile