Canonical Allele Identifier: CA397638057

Gene: PAFAH1B1

Linked Data

• MyVariant Identifiers: chr17:g.2568713C>G (hg19) ; chr17:g.2665419C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2665419C>G , CM000679.2:g.2665419C>G	GRCh38
NC_000017.10:g.2568713C>G , CM000679.1:g.2568713C>G	GRCh37
NC_000017.9:g.2515463C>G	NCBI36
NG_009799.1:g.76791C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.80C>G MANE Select	ENSP00000380378.4:p.Ala27Gly
ENST00000674608.1:c.134C>G	ENSP00000501976.1:p.Ala45Gly
ENST00000674717.1:c.-3-1573C>G	ENSP00000501931.1:n.-3-1573C>G
ENST00000675202.1:c.80C>G	ENSP00000502843.1:p.Ala27Gly
ENST00000675331.1:c.80C>G	ENSP00000502031.1:p.Ala27Gly
ENST00000675390.1:c.80C>G	ENSP00000501969.1:p.Ala27Gly
ENST00000675430.1:n.307C>G
ENST00000675621.1:c.80C>G	ENSP00000502117.1:p.Ala27Gly
ENST00000675764.1:c.*34C>G	ENSP00000502242.1:n.*34C>G
ENST00000676077.1:c.-116C>G	ENSP00000502507.1:n.-116C>G
ENST00000676098.1:c.80C>G	ENSP00000502735.1:p.Ala27Gly
ENST00000676188.1:c.80C>G	ENSP00000502577.1:p.Ala27Gly
ENST00000676201.1:n.272-597C>G
ENST00000676353.1:c.-78-597C>G	ENSP00000502737.1:n.-78-597C>G
ENST00000676456.1:n.223-597C>G
ENST00000397195.9:c.80C>G	ENSP00000380378.4:p.Ala27Gly
ENST00000570400.1:c.33-597C>G	ENSP00000460258.1:n.33-597C>G
ENST00000572915.6:n.273-1573C>G
ENST00000574816.5:n.31-10895C>G
ENST00000575477.5:n.620-597C>G
ENST00000576586.5:c.80C>G	ENSP00000461087.1:p.Ala27Gly
ENST00000609078.1:n.39C>G
NM_000430.3:c.80C>G	NP_000421.1:p.Ala27Gly
XM_011523901.1:c.134C>G	XP_011522203.1:p.Ala45Gly
XM_011523902.1:c.134C>G	XP_011522204.1:p.Ala45Gly
XM_011523903.1:c.134C>G	XP_011522205.1:p.Ala45Gly
XM_011523904.1:c.134C>G	XP_011522206.1:p.Ala45Gly
XM_011523901.2:c.134C>G	XP_011522203.1:p.Ala45Gly
XM_011523902.3:c.134C>G	XP_011522204.1:p.Ala45Gly
XM_011523903.2:c.134C>G	XP_011522205.1:p.Ala45Gly
XM_017024701.1:c.80C>G	XP_016880190.1:p.Ala27Gly
XM_017024702.2:c.-78-597C>G	XP_016880191.1:n.-78-597C>G
NM_000430.4:c.80C>G MANE Select	NP_000421.1:p.Ala27Gly