Canonical Allele Identifier: CA624508667

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs1475175104
• gnomAD v2: 17-2568765-T-C
• gnomAD v4: 17-2665471-T-C
• MyVariant Identifiers: chr17:g.2568765T>C (hg19) ; chr17:g.2665471T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2665471T>C , CM000679.2:g.2665471T>C	GRCh38
NC_000017.10:g.2568765T>C , CM000679.1:g.2568765T>C	GRCh37
NC_000017.9:g.2515515T>C	NCBI36
NG_009799.1:g.76843T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000397195.10:c.117+15T>C MANE Select	ENSP00000380378.4:n.117+15T>C
ENST00000674608.1:c.171+15T>C	ENSP00000501976.1:n.171+15T>C
ENST00000674717.1:c.-3-1521T>C	ENSP00000501931.1:n.-3-1521T>C
ENST00000675202.1:c.117+15T>C	ENSP00000502843.1:n.117+15T>C
ENST00000675331.1:c.117+15T>C	ENSP00000502031.1:n.117+15T>C
ENST00000675390.1:c.117+15T>C	ENSP00000501969.1:n.117+15T>C
ENST00000675430.1:n.344+15T>C
ENST00000675621.1:c.117+15T>C	ENSP00000502117.1:n.117+15T>C
ENST00000675764.1:c.*71+15T>C	ENSP00000502242.1:n.*71+15T>C
ENST00000676077.1:c.-79+15T>C	ENSP00000502507.1:n.-79+15T>C
ENST00000676098.1:c.117+15T>C	ENSP00000502735.1:n.117+15T>C
ENST00000676188.1:c.117+15T>C	ENSP00000502577.1:n.117+15T>C
ENST00000676201.1:n.272-545T>C
ENST00000676353.1:c.-78-545T>C	ENSP00000502737.1:n.-78-545T>C
ENST00000676456.1:n.223-545T>C
ENST00000397195.9:c.117+15T>C	ENSP00000380378.4:n.117+15T>C
ENST00000570400.1:c.33-545T>C	ENSP00000460258.1:n.33-545T>C
ENST00000572915.6:n.273-1521T>C
ENST00000574816.5:n.31-10843T>C
ENST00000575477.5:n.620-545T>C
ENST00000576586.5:c.117+15T>C	ENSP00000461087.1:n.117+15T>C
ENST00000609078.1:n.76+15T>C
NM_000430.3:c.117+15T>C	NP_000421.1:n.117+15T>C
XM_011523901.1:c.171+15T>C	XP_011522203.1:n.171+15T>C
XM_011523902.1:c.171+15T>C	XP_011522204.1:n.171+15T>C
XM_011523903.1:c.171+15T>C	XP_011522205.1:n.171+15T>C
XM_011523904.1:c.171+15T>C	XP_011522206.1:n.171+15T>C
XM_011523901.2:c.171+15T>C	XP_011522203.1:n.171+15T>C
XM_011523902.3:c.171+15T>C	XP_011522204.1:n.171+15T>C
XM_011523903.2:c.171+15T>C	XP_011522205.1:n.171+15T>C
XM_017024701.1:c.117+15T>C	XP_016880190.1:n.117+15T>C
XM_017024702.2:c.-78-545T>C	XP_016880191.1:n.-78-545T>C
NM_000430.4:c.117+15T>C MANE Select	NP_000421.1:n.117+15T>C