Canonical Allele Identifier: CA348406176
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428748T>A , CM000664.2:g.127428748T>A GRCh38
NC_000002.11:g.128186324T>A , CM000664.1:g.128186324T>A GRCh37
NC_000002.10:g.127902794T>A NCBI36
NG_016323.1:g.15329T>A , LRG_599:g.15329T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.1188T>A MANE Select ENSP00000234071.4:p.Asp396Glu
ENST00000234071.7:c.1188T>A ENSP00000234071.3:p.Asp396Glu
ENST00000402125.2:c.512T>A
ENST00000409048.1:c.1290T>A ENSP00000386679.1:p.Asp430Glu
NM_000312.3:c.1188T>A , LRG_599t1:c.1188T>A NP_000303.1:p.Asp396Glu
XM_005263715.3:c.1371T>A XP_005263772.1:p.Asp457Glu
XM_005263716.3:c.1353T>A XP_005263773.1:p.Asp451Glu
XM_005263717.3:c.1251T>A XP_005263774.1:p.Asp417Glu
XR_923313.1:n.1332-484A>T
XM_005263717.4:c.1251T>A XP_005263774.1:p.Asp417Glu
XM_017004505.1:c.1431T>A XP_016859994.1:p.Asp477Glu
XM_024453002.1:c.1533T>A XP_024308770.1:p.Asp511Glu
XM_024453003.1:c.1473T>A XP_024308771.1:p.Asp491Glu
XM_024453004.1:c.1371T>A XP_024308772.1:p.Asp457Glu
XM_024453005.1:c.1353T>A XP_024308773.1:p.Asp451Glu
XM_024453006.1:c.1290T>A XP_024308774.1:p.Asp430Glu
XR_001739705.1:n.3607-484A>T
XR_923313.2:n.4043-484A>T
NM_000312.4:c.1188T>A MANE Select NP_000303.1:p.Asp396Glu
NM_001375602.1:c.1371T>A NP_001362531.1:p.Asp457Glu
NM_001375603.1:c.1353T>A NP_001362532.1:p.Asp451Glu
NM_001375604.1:c.1251T>A NP_001362533.1:p.Asp417Glu
NM_001375605.1:c.1290T>A NP_001362534.1:p.Asp430Glu
NM_001375606.1:c.1356T>A NP_001362535.1:p.Asp452Glu
NM_001375607.1:c.1374T>A NP_001362536.1:p.Asp458Glu
NM_001375608.1:c.1131T>A NP_001362537.1:p.Asp377Glu
NM_001375609.1:c.1164T>A NP_001362538.1:p.Asp388Glu
NM_001375610.1:c.1182T>A NP_001362539.1:p.Asp394Glu
NM_001375611.1:c.1188T>A NP_001362540.1:p.Asp396Glu
NM_001375613.1:c.1188T>A NP_001362542.1:p.Asp396Glu