Canonical Allele Identifier: CA348404352
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428389G>C , CM000664.2:g.127428389G>C GRCh38
NC_000002.11:g.128185965G>C , CM000664.1:g.128185965G>C GRCh37
NC_000002.10:g.127902435G>C NCBI36
NG_016323.1:g.14970G>C , LRG_599:g.14970G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.829G>C MANE Select ENSP00000234071.4:p.Glu277Gln
ENST00000234071.7:c.829G>C ENSP00000234071.3:p.Glu277Gln
ENST00000402125.2:c.153G>C
ENST00000409048.1:c.931G>C ENSP00000386679.1:p.Glu311Gln
NM_000312.3:c.829G>C , LRG_599t1:c.829G>C NP_000303.1:p.Glu277Gln
XM_005263715.3:c.1012G>C XP_005263772.1:p.Glu338Gln
XM_005263716.3:c.994G>C XP_005263773.1:p.Glu332Gln
XM_005263717.3:c.892G>C XP_005263774.1:p.Glu298Gln
XR_923313.1:n.1332-125C>G
XM_005263717.4:c.892G>C XP_005263774.1:p.Glu298Gln
XM_017004505.1:c.1072G>C XP_016859994.1:p.Glu358Gln
XM_024453002.1:c.1174G>C XP_024308770.1:p.Glu392Gln
XM_024453003.1:c.1114G>C XP_024308771.1:p.Glu372Gln
XM_024453004.1:c.1012G>C XP_024308772.1:p.Glu338Gln
XM_024453005.1:c.994G>C XP_024308773.1:p.Glu332Gln
XM_024453006.1:c.931G>C XP_024308774.1:p.Glu311Gln
XR_001739705.1:n.3607-125C>G
XR_923313.2:n.4043-125C>G
NM_000312.4:c.829G>C MANE Select NP_000303.1:p.Glu277Gln
NM_001375602.1:c.1012G>C NP_001362531.1:p.Glu338Gln
NM_001375603.1:c.994G>C NP_001362532.1:p.Glu332Gln
NM_001375604.1:c.892G>C NP_001362533.1:p.Glu298Gln
NM_001375605.1:c.931G>C NP_001362534.1:p.Glu311Gln
NM_001375606.1:c.997G>C NP_001362535.1:p.Glu333Gln
NM_001375607.1:c.1015G>C NP_001362536.1:p.Glu339Gln
NM_001375608.1:c.772G>C NP_001362537.1:p.Glu258Gln
NM_001375609.1:c.805G>C NP_001362538.1:p.Glu269Gln
NM_001375610.1:c.823G>C NP_001362539.1:p.Glu275Gln
NM_001375611.1:c.829G>C NP_001362540.1:p.Glu277Gln
NM_001375613.1:c.829G>C NP_001362542.1:p.Glu277Gln