Canonical Allele Identifier: CA348404596
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428439G>C , CM000664.2:g.127428439G>C GRCh38
NC_000002.11:g.128186015G>C , CM000664.1:g.128186015G>C GRCh37
NC_000002.10:g.127902485G>C NCBI36
NG_016323.1:g.15020G>C , LRG_599:g.15020G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.879G>C MANE Select ENSP00000234071.4:p.Lys293Asn
ENST00000234071.7:c.879G>C ENSP00000234071.3:p.Lys293Asn
ENST00000402125.2:c.203G>C
ENST00000409048.1:c.981G>C ENSP00000386679.1:p.Lys327Asn
NM_000312.3:c.879G>C , LRG_599t1:c.879G>C NP_000303.1:p.Lys293Asn
XM_005263715.3:c.1062G>C XP_005263772.1:p.Lys354Asn
XM_005263716.3:c.1044G>C XP_005263773.1:p.Lys348Asn
XM_005263717.3:c.942G>C XP_005263774.1:p.Lys314Asn
XR_923313.1:n.1332-175C>G
XM_005263717.4:c.942G>C XP_005263774.1:p.Lys314Asn
XM_017004505.1:c.1122G>C XP_016859994.1:p.Lys374Asn
XM_024453002.1:c.1224G>C XP_024308770.1:p.Lys408Asn
XM_024453003.1:c.1164G>C XP_024308771.1:p.Lys388Asn
XM_024453004.1:c.1062G>C XP_024308772.1:p.Lys354Asn
XM_024453005.1:c.1044G>C XP_024308773.1:p.Lys348Asn
XM_024453006.1:c.981G>C XP_024308774.1:p.Lys327Asn
XR_001739705.1:n.3607-175C>G
XR_923313.2:n.4043-175C>G
NM_000312.4:c.879G>C MANE Select NP_000303.1:p.Lys293Asn
NM_001375602.1:c.1062G>C NP_001362531.1:p.Lys354Asn
NM_001375603.1:c.1044G>C NP_001362532.1:p.Lys348Asn
NM_001375604.1:c.942G>C NP_001362533.1:p.Lys314Asn
NM_001375605.1:c.981G>C NP_001362534.1:p.Lys327Asn
NM_001375606.1:c.1047G>C NP_001362535.1:p.Lys349Asn
NM_001375607.1:c.1065G>C NP_001362536.1:p.Lys355Asn
NM_001375608.1:c.822G>C NP_001362537.1:p.Lys274Asn
NM_001375609.1:c.855G>C NP_001362538.1:p.Lys285Asn
NM_001375610.1:c.873G>C NP_001362539.1:p.Lys291Asn
NM_001375611.1:c.879G>C NP_001362540.1:p.Lys293Asn
NM_001375613.1:c.879G>C NP_001362542.1:p.Lys293Asn