Canonical Allele Identifier: CA348406653
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428877C>A , CM000664.2:g.127428877C>A GRCh38
NC_000002.11:g.128186453C>A , CM000664.1:g.128186453C>A GRCh37
NC_000002.10:g.127902923C>A NCBI36
NG_016323.1:g.15458C>A , LRG_599:g.15458C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.1317C>A MANE Select ENSP00000234071.4:p.Ser439Arg
ENST00000234071.7:c.1317C>A ENSP00000234071.3:p.Ser439Arg
ENST00000402125.2:c.641C>A
ENST00000409048.1:c.1419C>A ENSP00000386679.1:p.Ser473Arg
NM_000312.3:c.1317C>A , LRG_599t1:c.1317C>A NP_000303.1:p.Ser439Arg
XM_005263715.3:c.1500C>A XP_005263772.1:p.Ser500Arg
XM_005263716.3:c.1482C>A XP_005263773.1:p.Ser494Arg
XM_005263717.3:c.1380C>A XP_005263774.1:p.Ser460Arg
XR_923313.1:n.1332-613G>T
XM_005263717.4:c.1380C>A XP_005263774.1:p.Ser460Arg
XM_017004505.1:c.1560C>A XP_016859994.1:p.Ser520Arg
XM_024453002.1:c.1662C>A XP_024308770.1:p.Ser554Arg
XM_024453003.1:c.1602C>A XP_024308771.1:p.Ser534Arg
XM_024453004.1:c.1500C>A XP_024308772.1:p.Ser500Arg
XM_024453005.1:c.1482C>A XP_024308773.1:p.Ser494Arg
XM_024453006.1:c.1419C>A XP_024308774.1:p.Ser473Arg
XR_001739705.1:n.3607-613G>T
XR_923313.2:n.4043-613G>T
NM_000312.4:c.1317C>A MANE Select NP_000303.1:p.Ser439Arg
NM_001375602.1:c.1500C>A NP_001362531.1:p.Ser500Arg
NM_001375603.1:c.1482C>A NP_001362532.1:p.Ser494Arg
NM_001375604.1:c.1380C>A NP_001362533.1:p.Ser460Arg
NM_001375605.1:c.1419C>A NP_001362534.1:p.Ser473Arg
NM_001375606.1:c.1485C>A NP_001362535.1:p.Ser495Arg
NM_001375607.1:c.1503C>A NP_001362536.1:p.Ser501Arg
NM_001375608.1:c.1260C>A NP_001362537.1:p.Ser420Arg
NM_001375609.1:c.1293C>A NP_001362538.1:p.Ser431Arg
NM_001375610.1:c.1311C>A NP_001362539.1:p.Ser437Arg
NM_001375611.1:c.1317C>A NP_001362540.1:p.Ser439Arg
NM_001375613.1:c.1317C>A NP_001362542.1:p.Ser439Arg