Canonical Allele Identifier: CA348405244
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428546A>G , CM000664.2:g.127428546A>G GRCh38
NC_000002.11:g.128186122A>G , CM000664.1:g.128186122A>G GRCh37
NC_000002.10:g.127902592A>G NCBI36
NG_016323.1:g.15127A>G , LRG_599:g.15127A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.986A>G MANE Select ENSP00000234071.4:p.Glu329Gly
ENST00000234071.7:c.986A>G ENSP00000234071.3:p.Glu329Gly
ENST00000402125.2:c.310A>G
ENST00000409048.1:c.1088A>G ENSP00000386679.1:p.Glu363Gly
NM_000312.3:c.986A>G , LRG_599t1:c.986A>G NP_000303.1:p.Glu329Gly
XM_005263715.3:c.1169A>G XP_005263772.1:p.Glu390Gly
XM_005263716.3:c.1151A>G XP_005263773.1:p.Glu384Gly
XM_005263717.3:c.1049A>G XP_005263774.1:p.Glu350Gly
XR_923313.1:n.1332-282T>C
XM_005263717.4:c.1049A>G XP_005263774.1:p.Glu350Gly
XM_017004505.1:c.1229A>G XP_016859994.1:p.Glu410Gly
XM_024453002.1:c.1331A>G XP_024308770.1:p.Glu444Gly
XM_024453003.1:c.1271A>G XP_024308771.1:p.Glu424Gly
XM_024453004.1:c.1169A>G XP_024308772.1:p.Glu390Gly
XM_024453005.1:c.1151A>G XP_024308773.1:p.Glu384Gly
XM_024453006.1:c.1088A>G XP_024308774.1:p.Glu363Gly
XR_001739705.1:n.3607-282T>C
XR_923313.2:n.4043-282T>C
NM_000312.4:c.986A>G MANE Select NP_000303.1:p.Glu329Gly
NM_001375602.1:c.1169A>G NP_001362531.1:p.Glu390Gly
NM_001375603.1:c.1151A>G NP_001362532.1:p.Glu384Gly
NM_001375604.1:c.1049A>G NP_001362533.1:p.Glu350Gly
NM_001375605.1:c.1088A>G NP_001362534.1:p.Glu363Gly
NM_001375606.1:c.1154A>G NP_001362535.1:p.Glu385Gly
NM_001375607.1:c.1172A>G NP_001362536.1:p.Glu391Gly
NM_001375608.1:c.929A>G NP_001362537.1:p.Glu310Gly
NM_001375609.1:c.962A>G NP_001362538.1:p.Glu321Gly
NM_001375610.1:c.980A>G NP_001362539.1:p.Glu327Gly
NM_001375611.1:c.986A>G NP_001362540.1:p.Glu329Gly
NM_001375613.1:c.986A>G NP_001362542.1:p.Glu329Gly