Canonical Allele Identifier: CA348404674
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428453A>T , CM000664.2:g.127428453A>T GRCh38
NC_000002.11:g.128186029A>T , CM000664.1:g.128186029A>T GRCh37
NC_000002.10:g.127902499A>T NCBI36
NG_016323.1:g.15034A>T , LRG_599:g.15034A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.893A>T MANE Select ENSP00000234071.4:p.Asn298Ile
ENST00000234071.7:c.893A>T ENSP00000234071.3:p.Asn298Ile
ENST00000402125.2:c.217A>T
ENST00000409048.1:c.995A>T ENSP00000386679.1:p.Asn332Ile
NM_000312.3:c.893A>T , LRG_599t1:c.893A>T NP_000303.1:p.Asn298Ile
XM_005263715.3:c.1076A>T XP_005263772.1:p.Asn359Ile
XM_005263716.3:c.1058A>T XP_005263773.1:p.Asn353Ile
XM_005263717.3:c.956A>T XP_005263774.1:p.Asn319Ile
XR_923313.1:n.1332-189T>A
XM_005263717.4:c.956A>T XP_005263774.1:p.Asn319Ile
XM_017004505.1:c.1136A>T XP_016859994.1:p.Asn379Ile
XM_024453002.1:c.1238A>T XP_024308770.1:p.Asn413Ile
XM_024453003.1:c.1178A>T XP_024308771.1:p.Asn393Ile
XM_024453004.1:c.1076A>T XP_024308772.1:p.Asn359Ile
XM_024453005.1:c.1058A>T XP_024308773.1:p.Asn353Ile
XM_024453006.1:c.995A>T XP_024308774.1:p.Asn332Ile
XR_001739705.1:n.3607-189T>A
XR_923313.2:n.4043-189T>A
NM_000312.4:c.893A>T MANE Select NP_000303.1:p.Asn298Ile
NM_001375602.1:c.1076A>T NP_001362531.1:p.Asn359Ile
NM_001375603.1:c.1058A>T NP_001362532.1:p.Asn353Ile
NM_001375604.1:c.956A>T NP_001362533.1:p.Asn319Ile
NM_001375605.1:c.995A>T NP_001362534.1:p.Asn332Ile
NM_001375606.1:c.1061A>T NP_001362535.1:p.Asn354Ile
NM_001375607.1:c.1079A>T NP_001362536.1:p.Asn360Ile
NM_001375608.1:c.836A>T NP_001362537.1:p.Asn279Ile
NM_001375609.1:c.869A>T NP_001362538.1:p.Asn290Ile
NM_001375610.1:c.887A>T NP_001362539.1:p.Asn296Ile
NM_001375611.1:c.893A>T NP_001362540.1:p.Asn298Ile
NM_001375613.1:c.893A>T NP_001362542.1:p.Asn298Ile