Canonical Allele Identifier: CA2048891689
Gene: PAWR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.79668450A>T , CM000674.2:g.79668450A>T GRCh38
NC_000012.11:g.80062230A>T , CM000674.1:g.80062230A>T GRCh37
NC_000012.10:g.78586361A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000328827.9:c.516+21279T>A MANE Select ENSP00000328088.4:n.516+21279T>A
ENST00000328827.8:c.516+21279T>A ENSP00000328088.4:n.516+21279T>A
ENST00000547571.1:n.303-42T>A
ENST00000550006.1:n.329+21279T>A
ENST00000551712.1:c.352+21279T>A
NM_002583.2:c.516+21279T>A NP_002574.2:n.516+21279T>A
XM_006719435.2:c.516+21279T>A XP_006719498.1:n.516+21279T>A
XM_006719436.2:c.516+21279T>A XP_006719499.1:n.516+21279T>A
XR_944560.1:n.826-42T>A
XR_944561.1:n.826-42T>A
NM_001354732.1:c.516+21279T>A NP_001341661.1:n.516+21279T>A
NM_001354733.1:c.516+21279T>A NP_001341662.1:n.516+21279T>A
NM_002583.3:c.516+21279T>A NP_002574.2:n.516+21279T>A
XM_017019378.1:c.516+21279T>A XP_016874867.1:n.516+21279T>A
XM_017019379.1:c.517-42T>A XP_016874868.1:n.517-42T>A
XR_944560.2:n.890-42T>A
XR_944561.2:n.890-42T>A
NM_002583.4:c.516+21279T>A MANE Select NP_002574.2:n.516+21279T>A
NM_001354732.2:c.516+21279T>A NP_001341661.1:n.516+21279T>A
NM_001354733.2:c.516+21279T>A NP_001341662.1:n.516+21279T>A