Canonical Allele Identifier: CA397642171

Gene: PAFAH1B1

Linked Data

• MyVariant Identifiers: chr17:g.2579821G>C (hg19) ; chr17:g.2676527G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676527G>C , CM000679.2:g.2676527G>C	GRCh38
NC_000017.10:g.2579821G>C , CM000679.1:g.2579821G>C	GRCh37
NC_000017.9:g.2526571G>C	NCBI36
NG_009799.1:g.87899G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.923G>C MANE Select	ENSP00000380378.4:p.Gly308Ala
ENST00000571495.2:n.2008G>C
ENST00000674608.1:c.977G>C	ENSP00000501976.1:p.Gly326Ala
ENST00000674717.1:c.728G>C	ENSP00000501931.1:p.Gly243Ala
ENST00000675084.1:n.177G>C
ENST00000675202.1:c.923G>C	ENSP00000502843.1:p.Gly308Ala
ENST00000675331.1:c.923G>C	ENSP00000502031.1:p.Gly308Ala
ENST00000675385.1:n.537G>C
ENST00000675390.1:c.923G>C	ENSP00000501969.1:p.Gly308Ala
ENST00000675574.1:n.3978G>C
ENST00000675621.1:c.923G>C	ENSP00000502117.1:p.Gly308Ala
ENST00000675764.1:c.*877G>C	ENSP00000502242.1:n.*877G>C
ENST00000676077.1:c.*241G>C	ENSP00000502507.1:n.*241G>C
ENST00000676098.1:c.923G>C	ENSP00000502735.1:p.Gly308Ala
ENST00000676188.1:c.923G>C	ENSP00000502577.1:p.Gly308Ala
ENST00000676353.1:c.728G>C	ENSP00000502737.1:p.Gly243Ala
ENST00000397193.7:n.731G>C
ENST00000397195.9:c.923G>C	ENSP00000380378.4:p.Gly308Ala
ENST00000571495.1:n.647G>C
ENST00000572915.6:n.676+2431G>C
ENST00000574468.1:c.396+2239G>C	ENSP00000460591.1:n.396+2239G>C
ENST00000574816.5:n.244G>C
NM_000430.3:c.923G>C	NP_000421.1:p.Gly308Ala
XM_011523901.1:c.977G>C	XP_011522203.1:p.Gly326Ala
XM_011523902.1:c.977G>C	XP_011522204.1:p.Gly326Ala
XM_011523903.1:c.977G>C	XP_011522205.1:p.Gly326Ala
XM_011523901.2:c.977G>C	XP_011522203.1:p.Gly326Ala
XM_011523902.3:c.977G>C	XP_011522204.1:p.Gly326Ala
XM_011523903.2:c.977G>C	XP_011522205.1:p.Gly326Ala
XM_017024701.1:c.923G>C	XP_016880190.1:p.Gly308Ala
XM_017024702.2:c.728G>C	XP_016880191.1:p.Gly243Ala
NM_000430.4:c.923G>C MANE Select	NP_000421.1:p.Gly308Ala