Canonical Allele Identifier: CA348405209
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428540A>C , CM000664.2:g.127428540A>C GRCh38
NC_000002.11:g.128186116A>C , CM000664.1:g.128186116A>C GRCh37
NC_000002.10:g.127902586A>C NCBI36
NG_016323.1:g.15121A>C , LRG_599:g.15121A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.980A>C MANE Select ENSP00000234071.4:p.Glu327Ala
ENST00000234071.7:c.980A>C ENSP00000234071.3:p.Glu327Ala
ENST00000402125.2:c.304A>C
ENST00000409048.1:c.1082A>C ENSP00000386679.1:p.Glu361Ala
NM_000312.3:c.980A>C , LRG_599t1:c.980A>C NP_000303.1:p.Glu327Ala
XM_005263715.3:c.1163A>C XP_005263772.1:p.Glu388Ala
XM_005263716.3:c.1145A>C XP_005263773.1:p.Glu382Ala
XM_005263717.3:c.1043A>C XP_005263774.1:p.Glu348Ala
XR_923313.1:n.1332-276T>G
XM_005263717.4:c.1043A>C XP_005263774.1:p.Glu348Ala
XM_017004505.1:c.1223A>C XP_016859994.1:p.Glu408Ala
XM_024453002.1:c.1325A>C XP_024308770.1:p.Glu442Ala
XM_024453003.1:c.1265A>C XP_024308771.1:p.Glu422Ala
XM_024453004.1:c.1163A>C XP_024308772.1:p.Glu388Ala
XM_024453005.1:c.1145A>C XP_024308773.1:p.Glu382Ala
XM_024453006.1:c.1082A>C XP_024308774.1:p.Glu361Ala
XR_001739705.1:n.3607-276T>G
XR_923313.2:n.4043-276T>G
NM_000312.4:c.980A>C MANE Select NP_000303.1:p.Glu327Ala
NM_001375602.1:c.1163A>C NP_001362531.1:p.Glu388Ala
NM_001375603.1:c.1145A>C NP_001362532.1:p.Glu382Ala
NM_001375604.1:c.1043A>C NP_001362533.1:p.Glu348Ala
NM_001375605.1:c.1082A>C NP_001362534.1:p.Glu361Ala
NM_001375606.1:c.1148A>C NP_001362535.1:p.Glu383Ala
NM_001375607.1:c.1166A>C NP_001362536.1:p.Glu389Ala
NM_001375608.1:c.923A>C NP_001362537.1:p.Glu308Ala
NM_001375609.1:c.956A>C NP_001362538.1:p.Glu319Ala
NM_001375610.1:c.974A>C NP_001362539.1:p.Glu325Ala
NM_001375611.1:c.980A>C NP_001362540.1:p.Glu327Ala
NM_001375613.1:c.980A>C NP_001362542.1:p.Glu327Ala