Canonical Allele Identifier: CA6699258
Community Standard Title: NM_002583.4(PAWR):c.61G>C (p.Glu21Gln)
Gene: PAWR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.79690184C>G , CM000674.2:g.79690184C>G GRCh38
NC_000012.11:g.80083964C>G , CM000674.1:g.80083964C>G GRCh37
NC_000012.10:g.78608095C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_002583.4:c.61G>C MANE Select NP_002574.2:p.Glu21Gln
ENST00000328827.9:c.61G>C MANE Select ENSP00000328088.4:p.Glu21Gln
NM_001354732.1:c.61G>C NP_001341661.1:p.Glu21Gln
NM_001354732.2:c.61G>C NP_001341661.1:p.Glu21Gln
NM_001354733.1:c.61G>C NP_001341662.1:p.Glu21Gln
NM_001354733.2:c.61G>C NP_001341662.1:p.Glu21Gln
NM_002583.2:c.61G>C NP_002574.2:p.Glu21Gln
NM_002583.3:c.61G>C NP_002574.2:p.Glu21Gln
ENST00000328827.8:c.61G>C ENSP00000328088.4:p.Glu21Gln
ENST00000548426.1:c.61G>C ENSP00000447454.1:p.Glu21Gln
ENST00000552637.1:c.61G>C ENSP00000449928.1:p.Glu21Gln
XM_006719435.2:c.61G>C XP_006719498.1:p.Glu21Gln
XM_006719436.2:c.61G>C XP_006719499.1:p.Glu21Gln
XM_017019378.1:c.61G>C XP_016874867.1:p.Glu21Gln
XM_017019379.1:c.61G>C XP_016874868.1:p.Glu21Gln
XR_944560.1:n.370G>C
XR_944560.2:n.434G>C
XR_944561.1:n.370G>C
XR_944561.2:n.434G>C