Canonical Allele Identifier: CA2048870779
Community Standard Title: NM_002583.4(PAWR):c.648+254C=
Gene: PAWR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.79620822G= , CM000674.2:g.79620822G= GRCh38
NC_000012.11:g.80014602G= , CM000674.1:g.80014602G= GRCh37
NC_000012.10:g.78538733G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_002583.4:c.648+254C= MANE Select NP_002574.2:n.648+254C=
ENST00000328827.9:c.648+254C= MANE Select ENSP00000328088.4:n.648+254C=
NM_001354732.1:c.648+254C= NP_001341661.1:n.648+254C=
NM_001354732.2:c.648+254C= NP_001341661.1:n.648+254C=
NM_001354733.1:c.648+254C= NP_001341662.1:n.648+254C=
NM_001354733.2:c.648+254C= NP_001341662.1:n.648+254C=
NM_002583.2:c.648+254C= NP_002574.2:n.648+254C=
NM_002583.3:c.648+254C= NP_002574.2:n.648+254C=
ENST00000328827.8:c.648+254C= ENSP00000328088.4:n.648+254C=
ENST00000549050.1:n.57+11284C=
ENST00000551712.1:c.484+254C=
XM_006719435.2:c.648+254C= XP_006719498.1:n.648+254C=
XM_006719436.2:c.648+254C= XP_006719499.1:n.648+254C=
XM_017019378.1:c.648+254C= XP_016874867.1:n.648+254C=