Canonical Allele Identifier: CA6699172
Gene: PAWR HGNC NCBI

Linked Data

dbSNP Id: rs2307223

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.79621127A>C , CM000674.2:g.79621127A>C GRCh38
NC_000012.11:g.80014907A>C , CM000674.1:g.80014907A>C GRCh37
NC_000012.10:g.78539038A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000328827.9:c.597T>G MANE Select ENSP00000328088.4:p.Ile199Met
ENST00000328827.8:c.597T>G ENSP00000328088.4:p.Ile199Met
ENST00000549050.1:n.57+10979T>G
ENST00000550006.1:n.481T>G
ENST00000551712.1:c.433T>G
NM_002583.2:c.597T>G NP_002574.2:p.Ile199Met
XM_006719435.2:c.597T>G XP_006719498.1:p.Ile199Met
XM_006719436.2:c.597T>G XP_006719499.1:p.Ile199Met
NM_001354732.1:c.597T>G NP_001341661.1:p.Ile199Met
NM_001354733.1:c.597T>G NP_001341662.1:p.Ile199Met
NM_002583.3:c.597T>G NP_002574.2:p.Ile199Met
XM_017019378.1:c.597T>G XP_016874867.1:p.Ile199Met
NM_002583.4:c.597T>G MANE Select NP_002574.2:p.Ile199Met
NM_001354732.2:c.597T>G NP_001341661.1:p.Ile199Met
NM_001354733.2:c.597T>G NP_001341662.1:p.Ile199Met