Canonical Allele Identifier: CA3044555032

Gene: PAWR

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.79620593T>G , CM000674.2:g.79620593T>G	GRCh38
NC_000012.11:g.80014373T>G , CM000674.1:g.80014373T>G	GRCh37
NC_000012.10:g.78538504T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_002583.4:c.648+483A>C MANE Select	NP_002574.2:n.648+483A>C
ENST00000328827.9:c.648+483A>C MANE Select	ENSP00000328088.4:n.648+483A>C
NM_001354732.1:c.648+483A>C	NP_001341661.1:n.648+483A>C
NM_001354732.2:c.648+483A>C	NP_001341661.1:n.648+483A>C
NM_001354733.1:c.648+483A>C	NP_001341662.1:n.648+483A>C
NM_001354733.2:c.648+483A>C	NP_001341662.1:n.648+483A>C
NM_002583.2:c.648+483A>C	NP_002574.2:n.648+483A>C
NM_002583.3:c.648+483A>C	NP_002574.2:n.648+483A>C
ENST00000328827.8:c.648+483A>C	ENSP00000328088.4:n.648+483A>C
ENST00000549050.1:n.57+11513A>C
ENST00000551712.1:c.484+483A>C
XM_006719435.2:c.648+483A>C	XP_006719498.1:n.648+483A>C
XM_006719436.2:c.648+483A>C	XP_006719499.1:n.648+483A>C
XM_017019378.1:c.648+483A>C	XP_016874867.1:n.648+483A>C