Canonical Allele Identifier: CA348406137
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428738A>T , CM000664.2:g.127428738A>T GRCh38
NC_000002.11:g.128186314A>T , CM000664.1:g.128186314A>T GRCh37
NC_000002.10:g.127902784A>T NCBI36
NG_016323.1:g.15319A>T , LRG_599:g.15319A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.1178A>T MANE Select ENSP00000234071.4:p.Asp393Val
ENST00000234071.7:c.1178A>T ENSP00000234071.3:p.Asp393Val
ENST00000402125.2:c.502A>T
ENST00000409048.1:c.1280A>T ENSP00000386679.1:p.Asp427Val
NM_000312.3:c.1178A>T , LRG_599t1:c.1178A>T NP_000303.1:p.Asp393Val
XM_005263715.3:c.1361A>T XP_005263772.1:p.Asp454Val
XM_005263716.3:c.1343A>T XP_005263773.1:p.Asp448Val
XM_005263717.3:c.1241A>T XP_005263774.1:p.Asp414Val
XR_923313.1:n.1332-474T>A
XM_005263717.4:c.1241A>T XP_005263774.1:p.Asp414Val
XM_017004505.1:c.1421A>T XP_016859994.1:p.Asp474Val
XM_024453002.1:c.1523A>T XP_024308770.1:p.Asp508Val
XM_024453003.1:c.1463A>T XP_024308771.1:p.Asp488Val
XM_024453004.1:c.1361A>T XP_024308772.1:p.Asp454Val
XM_024453005.1:c.1343A>T XP_024308773.1:p.Asp448Val
XM_024453006.1:c.1280A>T XP_024308774.1:p.Asp427Val
XR_001739705.1:n.3607-474T>A
XR_923313.2:n.4043-474T>A
NM_000312.4:c.1178A>T MANE Select NP_000303.1:p.Asp393Val
NM_001375602.1:c.1361A>T NP_001362531.1:p.Asp454Val
NM_001375603.1:c.1343A>T NP_001362532.1:p.Asp448Val
NM_001375604.1:c.1241A>T NP_001362533.1:p.Asp414Val
NM_001375605.1:c.1280A>T NP_001362534.1:p.Asp427Val
NM_001375606.1:c.1346A>T NP_001362535.1:p.Asp449Val
NM_001375607.1:c.1364A>T NP_001362536.1:p.Asp455Val
NM_001375608.1:c.1121A>T NP_001362537.1:p.Asp374Val
NM_001375609.1:c.1154A>T NP_001362538.1:p.Asp385Val
NM_001375610.1:c.1172A>T NP_001362539.1:p.Asp391Val
NM_001375611.1:c.1178A>T NP_001362540.1:p.Asp393Val
NM_001375613.1:c.1178A>T NP_001362542.1:p.Asp393Val