Canonical Allele Identifier: CA348404717
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428459T>A , CM000664.2:g.127428459T>A GRCh38
NC_000002.11:g.128186035T>A , CM000664.1:g.128186035T>A GRCh37
NC_000002.10:g.127902505T>A NCBI36
NG_016323.1:g.15040T>A , LRG_599:g.15040T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.899T>A MANE Select ENSP00000234071.4:p.Ile300Asn
ENST00000234071.7:c.899T>A ENSP00000234071.3:p.Ile300Asn
ENST00000402125.2:c.223T>A
ENST00000409048.1:c.1001T>A ENSP00000386679.1:p.Ile334Asn
NM_000312.3:c.899T>A , LRG_599t1:c.899T>A NP_000303.1:p.Ile300Asn
XM_005263715.3:c.1082T>A XP_005263772.1:p.Ile361Asn
XM_005263716.3:c.1064T>A XP_005263773.1:p.Ile355Asn
XM_005263717.3:c.962T>A XP_005263774.1:p.Ile321Asn
XR_923313.1:n.1332-195A>T
XM_005263717.4:c.962T>A XP_005263774.1:p.Ile321Asn
XM_017004505.1:c.1142T>A XP_016859994.1:p.Ile381Asn
XM_024453002.1:c.1244T>A XP_024308770.1:p.Ile415Asn
XM_024453003.1:c.1184T>A XP_024308771.1:p.Ile395Asn
XM_024453004.1:c.1082T>A XP_024308772.1:p.Ile361Asn
XM_024453005.1:c.1064T>A XP_024308773.1:p.Ile355Asn
XM_024453006.1:c.1001T>A XP_024308774.1:p.Ile334Asn
XR_001739705.1:n.3607-195A>T
XR_923313.2:n.4043-195A>T
NM_000312.4:c.899T>A MANE Select NP_000303.1:p.Ile300Asn
NM_001375602.1:c.1082T>A NP_001362531.1:p.Ile361Asn
NM_001375603.1:c.1064T>A NP_001362532.1:p.Ile355Asn
NM_001375604.1:c.962T>A NP_001362533.1:p.Ile321Asn
NM_001375605.1:c.1001T>A NP_001362534.1:p.Ile334Asn
NM_001375606.1:c.1067T>A NP_001362535.1:p.Ile356Asn
NM_001375607.1:c.1085T>A NP_001362536.1:p.Ile362Asn
NM_001375608.1:c.842T>A NP_001362537.1:p.Ile281Asn
NM_001375609.1:c.875T>A NP_001362538.1:p.Ile292Asn
NM_001375610.1:c.893T>A NP_001362539.1:p.Ile298Asn
NM_001375611.1:c.899T>A NP_001362540.1:p.Ile300Asn
NM_001375613.1:c.899T>A NP_001362542.1:p.Ile300Asn