Canonical Allele Identifier: CA348406080
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428722G>A , CM000664.2:g.127428722G>A GRCh38
NC_000002.11:g.128186298G>A , CM000664.1:g.128186298G>A GRCh37
NC_000002.10:g.127902768G>A NCBI36
NG_016323.1:g.15303G>A , LRG_599:g.15303G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.1162G>A MANE Select ENSP00000234071.4:p.Ala388Thr
ENST00000234071.7:c.1162G>A ENSP00000234071.3:p.Ala388Thr
ENST00000402125.2:c.486G>A
ENST00000409048.1:c.1264G>A ENSP00000386679.1:p.Ala422Thr
NM_000312.3:c.1162G>A , LRG_599t1:c.1162G>A NP_000303.1:p.Ala388Thr
XM_005263715.3:c.1345G>A XP_005263772.1:p.Ala449Thr
XM_005263716.3:c.1327G>A XP_005263773.1:p.Ala443Thr
XM_005263717.3:c.1225G>A XP_005263774.1:p.Ala409Thr
XR_923313.1:n.1332-458C>T
XM_005263717.4:c.1225G>A XP_005263774.1:p.Ala409Thr
XM_017004505.1:c.1405G>A XP_016859994.1:p.Ala469Thr
XM_024453002.1:c.1507G>A XP_024308770.1:p.Ala503Thr
XM_024453003.1:c.1447G>A XP_024308771.1:p.Ala483Thr
XM_024453004.1:c.1345G>A XP_024308772.1:p.Ala449Thr
XM_024453005.1:c.1327G>A XP_024308773.1:p.Ala443Thr
XM_024453006.1:c.1264G>A XP_024308774.1:p.Ala422Thr
XR_001739705.1:n.3607-458C>T
XR_923313.2:n.4043-458C>T
NM_000312.4:c.1162G>A MANE Select NP_000303.1:p.Ala388Thr
NM_001375602.1:c.1345G>A NP_001362531.1:p.Ala449Thr
NM_001375603.1:c.1327G>A NP_001362532.1:p.Ala443Thr
NM_001375604.1:c.1225G>A NP_001362533.1:p.Ala409Thr
NM_001375605.1:c.1264G>A NP_001362534.1:p.Ala422Thr
NM_001375606.1:c.1330G>A NP_001362535.1:p.Ala444Thr
NM_001375607.1:c.1348G>A NP_001362536.1:p.Ala450Thr
NM_001375608.1:c.1105G>A NP_001362537.1:p.Ala369Thr
NM_001375609.1:c.1138G>A NP_001362538.1:p.Ala380Thr
NM_001375610.1:c.1156G>A NP_001362539.1:p.Ala386Thr
NM_001375611.1:c.1162G>A NP_001362540.1:p.Ala388Thr
NM_001375613.1:c.1162G>A NP_001362542.1:p.Ala388Thr