Canonical Allele Identifier: CA348406237
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428762A>T , CM000664.2:g.127428762A>T GRCh38
NC_000002.11:g.128186338A>T , CM000664.1:g.128186338A>T GRCh37
NC_000002.10:g.127902808A>T NCBI36
NG_016323.1:g.15343A>T , LRG_599:g.15343A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.1202A>T MANE Select ENSP00000234071.4:p.Asp401Val
ENST00000234071.7:c.1202A>T ENSP00000234071.3:p.Asp401Val
ENST00000402125.2:c.526A>T
ENST00000409048.1:c.1304A>T ENSP00000386679.1:p.Asp435Val
NM_000312.3:c.1202A>T , LRG_599t1:c.1202A>T NP_000303.1:p.Asp401Val
XM_005263715.3:c.1385A>T XP_005263772.1:p.Asp462Val
XM_005263716.3:c.1367A>T XP_005263773.1:p.Asp456Val
XM_005263717.3:c.1265A>T XP_005263774.1:p.Asp422Val
XR_923313.1:n.1332-498T>A
XM_005263717.4:c.1265A>T XP_005263774.1:p.Asp422Val
XM_017004505.1:c.1445A>T XP_016859994.1:p.Asp482Val
XM_024453002.1:c.1547A>T XP_024308770.1:p.Asp516Val
XM_024453003.1:c.1487A>T XP_024308771.1:p.Asp496Val
XM_024453004.1:c.1385A>T XP_024308772.1:p.Asp462Val
XM_024453005.1:c.1367A>T XP_024308773.1:p.Asp456Val
XM_024453006.1:c.1304A>T XP_024308774.1:p.Asp435Val
XR_001739705.1:n.3607-498T>A
XR_923313.2:n.4043-498T>A
NM_000312.4:c.1202A>T MANE Select NP_000303.1:p.Asp401Val
NM_001375602.1:c.1385A>T NP_001362531.1:p.Asp462Val
NM_001375603.1:c.1367A>T NP_001362532.1:p.Asp456Val
NM_001375604.1:c.1265A>T NP_001362533.1:p.Asp422Val
NM_001375605.1:c.1304A>T NP_001362534.1:p.Asp435Val
NM_001375606.1:c.1370A>T NP_001362535.1:p.Asp457Val
NM_001375607.1:c.1388A>T NP_001362536.1:p.Asp463Val
NM_001375608.1:c.1145A>T NP_001362537.1:p.Asp382Val
NM_001375609.1:c.1178A>T NP_001362538.1:p.Asp393Val
NM_001375610.1:c.1196A>T NP_001362539.1:p.Asp399Val
NM_001375611.1:c.1202A>T NP_001362540.1:p.Asp401Val
NM_001375613.1:c.1202A>T NP_001362542.1:p.Asp401Val