Canonical Allele Identifier: CA348406154
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428743C>A , CM000664.2:g.127428743C>A GRCh38
NC_000002.11:g.128186319C>A , CM000664.1:g.128186319C>A GRCh37
NC_000002.10:g.127902789C>A NCBI36
NG_016323.1:g.15324C>A , LRG_599:g.15324C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.1183C>A MANE Select ENSP00000234071.4:p.Gln395Lys
ENST00000234071.7:c.1183C>A ENSP00000234071.3:p.Gln395Lys
ENST00000402125.2:c.507C>A
ENST00000409048.1:c.1285C>A ENSP00000386679.1:p.Gln429Lys
NM_000312.3:c.1183C>A , LRG_599t1:c.1183C>A NP_000303.1:p.Gln395Lys
XM_005263715.3:c.1366C>A XP_005263772.1:p.Gln456Lys
XM_005263716.3:c.1348C>A XP_005263773.1:p.Gln450Lys
XM_005263717.3:c.1246C>A XP_005263774.1:p.Gln416Lys
XR_923313.1:n.1332-479G>T
XM_005263717.4:c.1246C>A XP_005263774.1:p.Gln416Lys
XM_017004505.1:c.1426C>A XP_016859994.1:p.Gln476Lys
XM_024453002.1:c.1528C>A XP_024308770.1:p.Gln510Lys
XM_024453003.1:c.1468C>A XP_024308771.1:p.Gln490Lys
XM_024453004.1:c.1366C>A XP_024308772.1:p.Gln456Lys
XM_024453005.1:c.1348C>A XP_024308773.1:p.Gln450Lys
XM_024453006.1:c.1285C>A XP_024308774.1:p.Gln429Lys
XR_001739705.1:n.3607-479G>T
XR_923313.2:n.4043-479G>T
NM_000312.4:c.1183C>A MANE Select NP_000303.1:p.Gln395Lys
NM_001375602.1:c.1366C>A NP_001362531.1:p.Gln456Lys
NM_001375603.1:c.1348C>A NP_001362532.1:p.Gln450Lys
NM_001375604.1:c.1246C>A NP_001362533.1:p.Gln416Lys
NM_001375605.1:c.1285C>A NP_001362534.1:p.Gln429Lys
NM_001375606.1:c.1351C>A NP_001362535.1:p.Gln451Lys
NM_001375607.1:c.1369C>A NP_001362536.1:p.Gln457Lys
NM_001375608.1:c.1126C>A NP_001362537.1:p.Gln376Lys
NM_001375609.1:c.1159C>A NP_001362538.1:p.Gln387Lys
NM_001375610.1:c.1177C>A NP_001362539.1:p.Gln393Lys
NM_001375611.1:c.1183C>A NP_001362540.1:p.Gln395Lys
NM_001375613.1:c.1183C>A NP_001362542.1:p.Gln395Lys