Canonical Allele Identifier: CA1859328
Gene: PROC HGNC NCBI

Linked Data

ClinVar Variation Id: 989365
ClinVar RCV Id: RCV001270878
dbSNP Id: rs199469478

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127423176G>C , CM000664.2:g.127423176G>C GRCh38
NC_000002.11:g.128180752G>C , CM000664.1:g.128180752G>C GRCh37
NC_000002.10:g.127897222G>C NCBI36
NG_016323.1:g.9757G>C , LRG_599:g.9757G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.400+5G>C MANE Select ENSP00000234071.4:p.=
ENST00000234071.7:c.400+5G>C ENSP00000234071.3:p.=
ENST00000409048.1:c.405G>C ENSP00000386679.1:p.Glu135Asp
ENST00000419985.5:c.*211G>C ENSP00000392606.1:p.=
ENST00000442644.5:c.400+5G>C ENSP00000411241.1:p.=
NM_000312.3:c.400+5G>C , LRG_599t1:c.400+5G>C NP_000303.1:p.=
XM_005263715.3:c.583+5G>C XP_005263772.1:p.=
XM_005263716.3:c.468G>C XP_005263773.1:p.Glu156Asp
XM_005263717.3:c.463+5G>C XP_005263774.1:p.=
XM_005263717.4:c.463+5G>C XP_005263774.1:p.=
XM_017004505.1:c.643+5G>C XP_016859994.1:p.=
XM_024453002.1:c.648G>C XP_024308770.1:p.Glu216Asp
XM_024453003.1:c.588G>C XP_024308771.1:p.Glu196Asp
XM_024453004.1:c.583+5G>C XP_024308772.1:p.=
XM_024453005.1:c.468G>C XP_024308773.1:p.Glu156Asp
XM_024453006.1:c.405G>C XP_024308774.1:p.Glu135Asp
NM_000312.4:c.400+5G>C MANE Select NP_000303.1:p.=
NM_001375602.1:c.583+5G>C NP_001362531.1:p.=
NM_001375603.1:c.468G>C NP_001362532.1:p.Glu156Asp
NM_001375604.1:c.463+5G>C NP_001362533.1:p.=
NM_001375605.1:c.405G>C NP_001362534.1:p.Glu135Asp
NM_001375606.1:c.560G>C NP_001362535.1:p.Arg187Thr
NM_001375607.1:c.489G>C NP_001362536.1:p.Glu163Asp
NM_001375608.1:c.400+5G>C NP_001362537.1:p.=
NM_001375609.1:c.376+5G>C NP_001362538.1:p.=
NM_001375610.1:c.394+5G>C NP_001362539.1:p.=
NM_001375611.1:c.400+5G>C NP_001362540.1:p.=
NM_001375613.1:c.400+5G>C NP_001362542.1:p.=