Canonical Allele Identifier: CA1859165
Gene: PROC HGNC NCBI
COSMIC:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127418464A>T , CM000664.2:g.127418464A>T GRCh38
NC_000002.11:g.128176040A>T , CM000664.1:g.128176040A>T GRCh37
NC_000002.10:g.127892510A>T NCBI36
NG_016323.1:g.5045A>T , LRG_599:g.5045A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.-50A>T MANE Select ENSP00000234071.4:n.-50A>T
ENST00000234071.7:c.-50A>T ENSP00000234071.3:n.-50A>T
ENST00000419985.5:c.-46A>T ENSP00000392606.1:n.-46A>T
ENST00000429925.5:c.-166A>T ENSP00000412697.1:n.-166A>T
ENST00000442644.5:c.-50A>T ENSP00000411241.1:n.-50A>T
ENST00000474030.5:n.38A>T
NM_000312.3:c.-50A>T , LRG_599t1:c.-50A>T NP_000303.1:n.-50A>T
XM_005263715.3:c.18A>T XP_005263772.1:p.Arg6=
XM_005263716.3:c.18A>T XP_005263773.1:p.Arg6=
XM_005263717.3:c.18A>T XP_005263774.1:p.Arg6=
XM_005263717.4:c.18A>T XP_005263774.1:p.Arg6=
XM_017004505.1:c.229A>T XP_016859994.1:p.Asn77Tyr
XM_024453002.1:c.229A>T XP_024308770.1:p.Asn77Tyr
XM_024453003.1:c.18A>T XP_024308771.1:p.Arg6=
XM_024453004.1:c.18A>T XP_024308772.1:p.Arg6=
XM_024453005.1:c.18A>T XP_024308773.1:p.Arg6=
XM_024453006.1:c.-50A>T XP_024308774.1:n.-50A>T
NM_000312.4:c.-50A>T MANE Select NP_000303.1:n.-50A>T
NM_001375602.1:c.18A>T NP_001362531.1:p.Arg6=
NM_001375603.1:c.18A>T NP_001362532.1:p.Arg6=
NM_001375604.1:c.18A>T NP_001362533.1:p.Arg6=
NM_001375605.1:c.-50A>T NP_001362534.1:n.-50A>T
NM_001375606.1:c.18A>T NP_001362535.1:p.Arg6=
NM_001375607.1:c.18A>T NP_001362536.1:p.Arg6=
NM_001375608.1:c.-50A>T NP_001362537.1:n.-50A>T
NM_001375609.1:c.18A>T NP_001362538.1:p.Arg6=
NM_001375610.1:c.-50A>T NP_001362539.1:n.-50A>T
NM_001375611.1:c.-66A>T NP_001362540.1:n.-66A>T