Canonical Allele Identifier: CA348404225
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428361G>T , CM000664.2:g.127428361G>T GRCh38
NC_000002.11:g.128185937G>T , CM000664.1:g.128185937G>T GRCh37
NC_000002.10:g.127902407G>T NCBI36
NG_016323.1:g.14942G>T , LRG_599:g.14942G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.801G>T MANE Select ENSP00000234071.4:p.Glu267Asp
ENST00000234071.7:c.801G>T ENSP00000234071.3:p.Glu267Asp
ENST00000402125.2:c.125G>T
ENST00000409048.1:c.903G>T ENSP00000386679.1:p.Glu301Asp
NM_000312.3:c.801G>T , LRG_599t1:c.801G>T NP_000303.1:p.Glu267Asp
XM_005263715.3:c.984G>T XP_005263772.1:p.Glu328Asp
XM_005263716.3:c.966G>T XP_005263773.1:p.Glu322Asp
XM_005263717.3:c.864G>T XP_005263774.1:p.Glu288Asp
XR_923313.1:n.1332-97C>A
XM_005263717.4:c.864G>T XP_005263774.1:p.Glu288Asp
XM_017004505.1:c.1044G>T XP_016859994.1:p.Glu348Asp
XM_024453002.1:c.1146G>T XP_024308770.1:p.Glu382Asp
XM_024453003.1:c.1086G>T XP_024308771.1:p.Glu362Asp
XM_024453004.1:c.984G>T XP_024308772.1:p.Glu328Asp
XM_024453005.1:c.966G>T XP_024308773.1:p.Glu322Asp
XM_024453006.1:c.903G>T XP_024308774.1:p.Glu301Asp
XR_001739705.1:n.3607-97C>A
XR_923313.2:n.4043-97C>A
NM_000312.4:c.801G>T MANE Select NP_000303.1:p.Glu267Asp
NM_001375602.1:c.984G>T NP_001362531.1:p.Glu328Asp
NM_001375603.1:c.966G>T NP_001362532.1:p.Glu322Asp
NM_001375604.1:c.864G>T NP_001362533.1:p.Glu288Asp
NM_001375605.1:c.903G>T NP_001362534.1:p.Glu301Asp
NM_001375606.1:c.969G>T NP_001362535.1:p.Glu323Asp
NM_001375607.1:c.987G>T NP_001362536.1:p.Glu329Asp
NM_001375608.1:c.744G>T NP_001362537.1:p.Glu248Asp
NM_001375609.1:c.777G>T NP_001362538.1:p.Glu259Asp
NM_001375610.1:c.795G>T NP_001362539.1:p.Glu265Asp
NM_001375611.1:c.801G>T NP_001362540.1:p.Glu267Asp
NM_001375613.1:c.801G>T NP_001362542.1:p.Glu267Asp