Canonical Allele Identifier: CA240512590
Gene: PAWR HGNC NCBI
gnomAD v4:

Genomic Alleles

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

Transcript Alleles

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