Canonical Allele Identifier: CA348401017
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127426100G>A , CM000664.2:g.127426100G>A GRCh38
NC_000002.11:g.128183676G>A , CM000664.1:g.128183676G>A GRCh37
NC_000002.10:g.127900146G>A NCBI36
NG_016323.1:g.12681G>A , LRG_599:g.12681G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.551G>A MANE Select ENSP00000234071.4:p.Gly184Glu
ENST00000234071.7:c.551G>A ENSP00000234071.3:p.Gly184Glu
ENST00000402125.2:c.121-2257G>A
ENST00000409048.1:c.653G>A ENSP00000386679.1:p.Gly218Glu
ENST00000442644.5:c.494G>A ENSP00000411241.1:p.Gly165Glu
ENST00000464089.1:n.137G>A
NM_000312.3:c.551G>A , LRG_599t1:c.551G>A NP_000303.1:p.Gly184Glu
XM_005263715.3:c.734G>A XP_005263772.1:p.Gly245Glu
XM_005263716.3:c.716G>A XP_005263773.1:p.Gly239Glu
XM_005263717.3:c.614G>A XP_005263774.1:p.Gly205Glu
XM_005263717.4:c.614G>A XP_005263774.1:p.Gly205Glu
XM_017004505.1:c.794G>A XP_016859994.1:p.Gly265Glu
XM_024453002.1:c.896G>A XP_024308770.1:p.Gly299Glu
XM_024453003.1:c.836G>A XP_024308771.1:p.Gly279Glu
XM_024453004.1:c.734G>A XP_024308772.1:p.Gly245Glu
XM_024453005.1:c.716G>A XP_024308773.1:p.Gly239Glu
XM_024453006.1:c.653G>A XP_024308774.1:p.Gly218Glu
XR_923313.2:n.4485C>T
NM_000312.4:c.551G>A MANE Select NP_000303.1:p.Gly184Glu
NM_001375602.1:c.734G>A NP_001362531.1:p.Gly245Glu
NM_001375603.1:c.716G>A NP_001362532.1:p.Gly239Glu
NM_001375604.1:c.614G>A NP_001362533.1:p.Gly205Glu
NM_001375605.1:c.653G>A NP_001362534.1:p.Gly218Glu
NM_001375606.1:c.719G>A NP_001362535.1:p.Gly240Glu
NM_001375607.1:c.737G>A NP_001362536.1:p.Gly246Glu
NM_001375608.1:c.494G>A NP_001362537.1:p.Gly165Glu
NM_001375609.1:c.527G>A NP_001362538.1:p.Gly176Glu
NM_001375610.1:c.545G>A NP_001362539.1:p.Gly182Glu
NM_001375611.1:c.551G>A NP_001362540.1:p.Gly184Glu
NM_001375613.1:c.551G>A NP_001362542.1:p.Gly184Glu