Canonical Allele Identifier: CA348404251
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428366A>G , CM000664.2:g.127428366A>G GRCh38
NC_000002.11:g.128185942A>G , CM000664.1:g.128185942A>G GRCh37
NC_000002.10:g.127902412A>G NCBI36
NG_016323.1:g.14947A>G , LRG_599:g.14947A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.806A>G MANE Select ENSP00000234071.4:p.Asp269Gly
ENST00000234071.7:c.806A>G ENSP00000234071.3:p.Asp269Gly
ENST00000402125.2:c.130A>G
ENST00000409048.1:c.908A>G ENSP00000386679.1:p.Asp303Gly
NM_000312.3:c.806A>G , LRG_599t1:c.806A>G NP_000303.1:p.Asp269Gly
XM_005263715.3:c.989A>G XP_005263772.1:p.Asp330Gly
XM_005263716.3:c.971A>G XP_005263773.1:p.Asp324Gly
XM_005263717.3:c.869A>G XP_005263774.1:p.Asp290Gly
XR_923313.1:n.1332-102T>C
XM_005263717.4:c.869A>G XP_005263774.1:p.Asp290Gly
XM_017004505.1:c.1049A>G XP_016859994.1:p.Asp350Gly
XM_024453002.1:c.1151A>G XP_024308770.1:p.Asp384Gly
XM_024453003.1:c.1091A>G XP_024308771.1:p.Asp364Gly
XM_024453004.1:c.989A>G XP_024308772.1:p.Asp330Gly
XM_024453005.1:c.971A>G XP_024308773.1:p.Asp324Gly
XM_024453006.1:c.908A>G XP_024308774.1:p.Asp303Gly
XR_001739705.1:n.3607-102T>C
XR_923313.2:n.4043-102T>C
NM_000312.4:c.806A>G MANE Select NP_000303.1:p.Asp269Gly
NM_001375602.1:c.989A>G NP_001362531.1:p.Asp330Gly
NM_001375603.1:c.971A>G NP_001362532.1:p.Asp324Gly
NM_001375604.1:c.869A>G NP_001362533.1:p.Asp290Gly
NM_001375605.1:c.908A>G NP_001362534.1:p.Asp303Gly
NM_001375606.1:c.974A>G NP_001362535.1:p.Asp325Gly
NM_001375607.1:c.992A>G NP_001362536.1:p.Asp331Gly
NM_001375608.1:c.749A>G NP_001362537.1:p.Asp250Gly
NM_001375609.1:c.782A>G NP_001362538.1:p.Asp261Gly
NM_001375610.1:c.800A>G NP_001362539.1:p.Asp267Gly
NM_001375611.1:c.806A>G NP_001362540.1:p.Asp269Gly
NM_001375613.1:c.806A>G NP_001362542.1:p.Asp269Gly