Canonical Allele Identifier: CA348401094
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127426112A>T , CM000664.2:g.127426112A>T GRCh38
NC_000002.11:g.128183688A>T , CM000664.1:g.128183688A>T GRCh37
NC_000002.10:g.127900158A>T NCBI36
NG_016323.1:g.12693A>T , LRG_599:g.12693A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.563A>T MANE Select ENSP00000234071.4:p.Lys188Met
ENST00000234071.7:c.563A>T ENSP00000234071.3:p.Lys188Met
ENST00000402125.2:c.121-2245A>T
ENST00000409048.1:c.665A>T ENSP00000386679.1:p.Lys222Met
ENST00000442644.5:c.506A>T ENSP00000411241.1:p.Lys169Met
ENST00000464089.1:n.149A>T
NM_000312.3:c.563A>T , LRG_599t1:c.563A>T NP_000303.1:p.Lys188Met
XM_005263715.3:c.746A>T XP_005263772.1:p.Lys249Met
XM_005263716.3:c.728A>T XP_005263773.1:p.Lys243Met
XM_005263717.3:c.626A>T XP_005263774.1:p.Lys209Met
XM_005263717.4:c.626A>T XP_005263774.1:p.Lys209Met
XM_017004505.1:c.806A>T XP_016859994.1:p.Lys269Met
XM_024453002.1:c.908A>T XP_024308770.1:p.Lys303Met
XM_024453003.1:c.848A>T XP_024308771.1:p.Lys283Met
XM_024453004.1:c.746A>T XP_024308772.1:p.Lys249Met
XM_024453005.1:c.728A>T XP_024308773.1:p.Lys243Met
XM_024453006.1:c.665A>T XP_024308774.1:p.Lys222Met
XR_923313.2:n.4473T>A
NM_000312.4:c.563A>T MANE Select NP_000303.1:p.Lys188Met
NM_001375602.1:c.746A>T NP_001362531.1:p.Lys249Met
NM_001375603.1:c.728A>T NP_001362532.1:p.Lys243Met
NM_001375604.1:c.626A>T NP_001362533.1:p.Lys209Met
NM_001375605.1:c.665A>T NP_001362534.1:p.Lys222Met
NM_001375606.1:c.731A>T NP_001362535.1:p.Lys244Met
NM_001375607.1:c.749A>T NP_001362536.1:p.Lys250Met
NM_001375608.1:c.506A>T NP_001362537.1:p.Lys169Met
NM_001375609.1:c.539A>T NP_001362538.1:p.Lys180Met
NM_001375610.1:c.557A>T NP_001362539.1:p.Lys186Met
NM_001375611.1:c.563A>T NP_001362540.1:p.Lys188Met
NM_001375613.1:c.563A>T NP_001362542.1:p.Lys188Met