Canonical Allele Identifier: CA348405186
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428536G>A , CM000664.2:g.127428536G>A GRCh38
NC_000002.11:g.128186112G>A , CM000664.1:g.128186112G>A GRCh37
NC_000002.10:g.127902582G>A NCBI36
NG_016323.1:g.15117G>A , LRG_599:g.15117G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.976G>A MANE Select ENSP00000234071.4:p.Ala326Thr
ENST00000234071.7:c.976G>A ENSP00000234071.3:p.Ala326Thr
ENST00000402125.2:c.300G>A
ENST00000409048.1:c.1078G>A ENSP00000386679.1:p.Ala360Thr
NM_000312.3:c.976G>A , LRG_599t1:c.976G>A NP_000303.1:p.Ala326Thr
XM_005263715.3:c.1159G>A XP_005263772.1:p.Ala387Thr
XM_005263716.3:c.1141G>A XP_005263773.1:p.Ala381Thr
XM_005263717.3:c.1039G>A XP_005263774.1:p.Ala347Thr
XR_923313.1:n.1332-272C>T
XM_005263717.4:c.1039G>A XP_005263774.1:p.Ala347Thr
XM_017004505.1:c.1219G>A XP_016859994.1:p.Ala407Thr
XM_024453002.1:c.1321G>A XP_024308770.1:p.Ala441Thr
XM_024453003.1:c.1261G>A XP_024308771.1:p.Ala421Thr
XM_024453004.1:c.1159G>A XP_024308772.1:p.Ala387Thr
XM_024453005.1:c.1141G>A XP_024308773.1:p.Ala381Thr
XM_024453006.1:c.1078G>A XP_024308774.1:p.Ala360Thr
XR_001739705.1:n.3607-272C>T
XR_923313.2:n.4043-272C>T
NM_000312.4:c.976G>A MANE Select NP_000303.1:p.Ala326Thr
NM_001375602.1:c.1159G>A NP_001362531.1:p.Ala387Thr
NM_001375603.1:c.1141G>A NP_001362532.1:p.Ala381Thr
NM_001375604.1:c.1039G>A NP_001362533.1:p.Ala347Thr
NM_001375605.1:c.1078G>A NP_001362534.1:p.Ala360Thr
NM_001375606.1:c.1144G>A NP_001362535.1:p.Ala382Thr
NM_001375607.1:c.1162G>A NP_001362536.1:p.Ala388Thr
NM_001375608.1:c.919G>A NP_001362537.1:p.Ala307Thr
NM_001375609.1:c.952G>A NP_001362538.1:p.Ala318Thr
NM_001375610.1:c.970G>A NP_001362539.1:p.Ala324Thr
NM_001375611.1:c.976G>A NP_001362540.1:p.Ala326Thr
NM_001375613.1:c.976G>A NP_001362542.1:p.Ala326Thr