Canonical Allele Identifier: CA348405695
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428629A>G , CM000664.2:g.127428629A>G GRCh38
NC_000002.11:g.128186205A>G , CM000664.1:g.128186205A>G GRCh37
NC_000002.10:g.127902675A>G NCBI36
NG_016323.1:g.15210A>G , LRG_599:g.15210A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.1069A>G MANE Select ENSP00000234071.4:p.Thr357Ala
ENST00000234071.7:c.1069A>G ENSP00000234071.3:p.Thr357Ala
ENST00000402125.2:c.393A>G
ENST00000409048.1:c.1171A>G ENSP00000386679.1:p.Thr391Ala
NM_000312.3:c.1069A>G , LRG_599t1:c.1069A>G NP_000303.1:p.Thr357Ala
XM_005263715.3:c.1252A>G XP_005263772.1:p.Thr418Ala
XM_005263716.3:c.1234A>G XP_005263773.1:p.Thr412Ala
XM_005263717.3:c.1132A>G XP_005263774.1:p.Thr378Ala
XR_923313.1:n.1332-365T>C
XM_005263717.4:c.1132A>G XP_005263774.1:p.Thr378Ala
XM_017004505.1:c.1312A>G XP_016859994.1:p.Thr438Ala
XM_024453002.1:c.1414A>G XP_024308770.1:p.Thr472Ala
XM_024453003.1:c.1354A>G XP_024308771.1:p.Thr452Ala
XM_024453004.1:c.1252A>G XP_024308772.1:p.Thr418Ala
XM_024453005.1:c.1234A>G XP_024308773.1:p.Thr412Ala
XM_024453006.1:c.1171A>G XP_024308774.1:p.Thr391Ala
XR_001739705.1:n.3607-365T>C
XR_923313.2:n.4043-365T>C
NM_000312.4:c.1069A>G MANE Select NP_000303.1:p.Thr357Ala
NM_001375602.1:c.1252A>G NP_001362531.1:p.Thr418Ala
NM_001375603.1:c.1234A>G NP_001362532.1:p.Thr412Ala
NM_001375604.1:c.1132A>G NP_001362533.1:p.Thr378Ala
NM_001375605.1:c.1171A>G NP_001362534.1:p.Thr391Ala
NM_001375606.1:c.1237A>G NP_001362535.1:p.Thr413Ala
NM_001375607.1:c.1255A>G NP_001362536.1:p.Thr419Ala
NM_001375608.1:c.1012A>G NP_001362537.1:p.Thr338Ala
NM_001375609.1:c.1045A>G NP_001362538.1:p.Thr349Ala
NM_001375610.1:c.1063A>G NP_001362539.1:p.Thr355Ala
NM_001375611.1:c.1069A>G NP_001362540.1:p.Thr357Ala
NM_001375613.1:c.1069A>G NP_001362542.1:p.Thr357Ala