Canonical Allele Identifier: CA348405110
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428524G>A , CM000664.2:g.127428524G>A GRCh38
NC_000002.11:g.128186100G>A , CM000664.1:g.128186100G>A GRCh37
NC_000002.10:g.127902570G>A NCBI36
NG_016323.1:g.15105G>A , LRG_599:g.15105G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.964G>A MANE Select ENSP00000234071.4:p.Asp322Asn
ENST00000234071.7:c.964G>A ENSP00000234071.3:p.Asp322Asn
ENST00000402125.2:c.288G>A
ENST00000409048.1:c.1066G>A ENSP00000386679.1:p.Asp356Asn
NM_000312.3:c.964G>A , LRG_599t1:c.964G>A NP_000303.1:p.Asp322Asn
XM_005263715.3:c.1147G>A XP_005263772.1:p.Asp383Asn
XM_005263716.3:c.1129G>A XP_005263773.1:p.Asp377Asn
XM_005263717.3:c.1027G>A XP_005263774.1:p.Asp343Asn
XR_923313.1:n.1332-260C>T
XM_005263717.4:c.1027G>A XP_005263774.1:p.Asp343Asn
XM_017004505.1:c.1207G>A XP_016859994.1:p.Asp403Asn
XM_024453002.1:c.1309G>A XP_024308770.1:p.Asp437Asn
XM_024453003.1:c.1249G>A XP_024308771.1:p.Asp417Asn
XM_024453004.1:c.1147G>A XP_024308772.1:p.Asp383Asn
XM_024453005.1:c.1129G>A XP_024308773.1:p.Asp377Asn
XM_024453006.1:c.1066G>A XP_024308774.1:p.Asp356Asn
XR_001739705.1:n.3607-260C>T
XR_923313.2:n.4043-260C>T
NM_000312.4:c.964G>A MANE Select NP_000303.1:p.Asp322Asn
NM_001375602.1:c.1147G>A NP_001362531.1:p.Asp383Asn
NM_001375603.1:c.1129G>A NP_001362532.1:p.Asp377Asn
NM_001375604.1:c.1027G>A NP_001362533.1:p.Asp343Asn
NM_001375605.1:c.1066G>A NP_001362534.1:p.Asp356Asn
NM_001375606.1:c.1132G>A NP_001362535.1:p.Asp378Asn
NM_001375607.1:c.1150G>A NP_001362536.1:p.Asp384Asn
NM_001375608.1:c.907G>A NP_001362537.1:p.Asp303Asn
NM_001375609.1:c.940G>A NP_001362538.1:p.Asp314Asn
NM_001375610.1:c.958G>A NP_001362539.1:p.Asp320Asn
NM_001375611.1:c.964G>A NP_001362540.1:p.Asp322Asn
NM_001375613.1:c.964G>A NP_001362542.1:p.Asp322Asn