Canonical Allele Identifier: CA348398113
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127421408T>G , CM000664.2:g.127421408T>G GRCh38
NC_000002.11:g.128178984T>G , CM000664.1:g.128178984T>G GRCh37
NC_000002.10:g.127895454T>G NCBI36
NG_016323.1:g.7989T>G , LRG_599:g.7989T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.196T>G MANE Select ENSP00000234071.4:p.Phe66Val
ENST00000234071.7:c.196T>G ENSP00000234071.3:p.Phe66Val
ENST00000409048.1:c.196T>G ENSP00000386679.1:p.Phe66Val
ENST00000419985.5:c.*2T>G ENSP00000392606.1:n.*2T>G
ENST00000427769.5:c.196T>G ENSP00000406295.1:p.Phe66Val
ENST00000429925.5:c.196T>G ENSP00000412697.1:p.Phe66Val
ENST00000431364.1:c.*2T>G ENSP00000391220.1:n.*2T>G
ENST00000442644.5:c.196T>G ENSP00000411241.1:p.Phe66Val
ENST00000474030.5:n.279T>G
NM_000312.3:c.196T>G , LRG_599t1:c.196T>G NP_000303.1:p.Phe66Val
XM_005263715.3:c.379T>G XP_005263772.1:p.Phe127Val
XM_005263716.3:c.259T>G XP_005263773.1:p.Phe87Val
XM_005263717.3:c.259T>G XP_005263774.1:p.Phe87Val
XM_005263717.4:c.259T>G XP_005263774.1:p.Phe87Val
XM_017004505.1:c.439T>G XP_016859994.1:p.Phe147Val
XM_024453002.1:c.439T>G XP_024308770.1:p.Phe147Val
XM_024453003.1:c.379T>G XP_024308771.1:p.Phe127Val
XM_024453004.1:c.379T>G XP_024308772.1:p.Phe127Val
XM_024453005.1:c.259T>G XP_024308773.1:p.Phe87Val
XM_024453006.1:c.196T>G XP_024308774.1:p.Phe66Val
NM_000312.4:c.196T>G MANE Select NP_000303.1:p.Phe66Val
NM_001375602.1:c.379T>G NP_001362531.1:p.Phe127Val
NM_001375603.1:c.259T>G NP_001362532.1:p.Phe87Val
NM_001375604.1:c.259T>G NP_001362533.1:p.Phe87Val
NM_001375605.1:c.196T>G NP_001362534.1:p.Phe66Val
NM_001375606.1:c.259T>G NP_001362535.1:p.Phe87Val
NM_001375607.1:c.280T>G NP_001362536.1:p.Phe94Val
NM_001375608.1:c.196T>G NP_001362537.1:p.Phe66Val
NM_001375609.1:c.172T>G NP_001362538.1:p.Phe58Val
NM_001375610.1:c.190T>G NP_001362539.1:p.Phe64Val
NM_001375611.1:c.196T>G NP_001362540.1:p.Phe66Val
NM_001375613.1:c.196T>G NP_001362542.1:p.Phe66Val