Canonical Allele Identifier: CA348404301
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428379G>A , CM000664.2:g.127428379G>A GRCh38
NC_000002.11:g.128185955G>A , CM000664.1:g.128185955G>A GRCh37
NC_000002.10:g.127902425G>A NCBI36
NG_016323.1:g.14960G>A , LRG_599:g.14960G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.819G>A MANE Select ENSP00000234071.4:p.Trp273Ter
ENST00000234071.7:c.819G>A ENSP00000234071.3:p.Trp273Ter
ENST00000402125.2:c.143G>A
ENST00000409048.1:c.921G>A ENSP00000386679.1:p.Trp307Ter
NM_000312.3:c.819G>A , LRG_599t1:c.819G>A NP_000303.1:p.Trp273Ter
XM_005263715.3:c.1002G>A XP_005263772.1:p.Trp334Ter
XM_005263716.3:c.984G>A XP_005263773.1:p.Trp328Ter
XM_005263717.3:c.882G>A XP_005263774.1:p.Trp294Ter
XR_923313.1:n.1332-115C>T
XM_005263717.4:c.882G>A XP_005263774.1:p.Trp294Ter
XM_017004505.1:c.1062G>A XP_016859994.1:p.Trp354Ter
XM_024453002.1:c.1164G>A XP_024308770.1:p.Trp388Ter
XM_024453003.1:c.1104G>A XP_024308771.1:p.Trp368Ter
XM_024453004.1:c.1002G>A XP_024308772.1:p.Trp334Ter
XM_024453005.1:c.984G>A XP_024308773.1:p.Trp328Ter
XM_024453006.1:c.921G>A XP_024308774.1:p.Trp307Ter
XR_001739705.1:n.3607-115C>T
XR_923313.2:n.4043-115C>T
NM_000312.4:c.819G>A MANE Select NP_000303.1:p.Trp273Ter
NM_001375602.1:c.1002G>A NP_001362531.1:p.Trp334Ter
NM_001375603.1:c.984G>A NP_001362532.1:p.Trp328Ter
NM_001375604.1:c.882G>A NP_001362533.1:p.Trp294Ter
NM_001375605.1:c.921G>A NP_001362534.1:p.Trp307Ter
NM_001375606.1:c.987G>A NP_001362535.1:p.Trp329Ter
NM_001375607.1:c.1005G>A NP_001362536.1:p.Trp335Ter
NM_001375608.1:c.762G>A NP_001362537.1:p.Trp254Ter
NM_001375609.1:c.795G>A NP_001362538.1:p.Trp265Ter
NM_001375610.1:c.813G>A NP_001362539.1:p.Trp271Ter
NM_001375611.1:c.819G>A NP_001362540.1:p.Trp273Ter
NM_001375613.1:c.819G>A NP_001362542.1:p.Trp273Ter