Canonical Allele Identifier: CA348406656
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428878C>G , CM000664.2:g.127428878C>G GRCh38
NC_000002.11:g.128186454C>G , CM000664.1:g.128186454C>G GRCh37
NC_000002.10:g.127902924C>G NCBI36
NG_016323.1:g.15459C>G , LRG_599:g.15459C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.1318C>G MANE Select ENSP00000234071.4:p.Arg440Gly
ENST00000234071.7:c.1318C>G ENSP00000234071.3:p.Arg440Gly
ENST00000402125.2:c.642C>G
ENST00000409048.1:c.1420C>G ENSP00000386679.1:p.Arg474Gly
NM_000312.3:c.1318C>G , LRG_599t1:c.1318C>G NP_000303.1:p.Arg440Gly
XM_005263715.3:c.1501C>G XP_005263772.1:p.Arg501Gly
XM_005263716.3:c.1483C>G XP_005263773.1:p.Arg495Gly
XM_005263717.3:c.1381C>G XP_005263774.1:p.Arg461Gly
XR_923313.1:n.1332-614G>C
XM_005263717.4:c.1381C>G XP_005263774.1:p.Arg461Gly
XM_017004505.1:c.1561C>G XP_016859994.1:p.Arg521Gly
XM_024453002.1:c.1663C>G XP_024308770.1:p.Arg555Gly
XM_024453003.1:c.1603C>G XP_024308771.1:p.Arg535Gly
XM_024453004.1:c.1501C>G XP_024308772.1:p.Arg501Gly
XM_024453005.1:c.1483C>G XP_024308773.1:p.Arg495Gly
XM_024453006.1:c.1420C>G XP_024308774.1:p.Arg474Gly
XR_001739705.1:n.3607-614G>C
XR_923313.2:n.4043-614G>C
NM_000312.4:c.1318C>G MANE Select NP_000303.1:p.Arg440Gly
NM_001375602.1:c.1501C>G NP_001362531.1:p.Arg501Gly
NM_001375603.1:c.1483C>G NP_001362532.1:p.Arg495Gly
NM_001375604.1:c.1381C>G NP_001362533.1:p.Arg461Gly
NM_001375605.1:c.1420C>G NP_001362534.1:p.Arg474Gly
NM_001375606.1:c.1486C>G NP_001362535.1:p.Arg496Gly
NM_001375607.1:c.1504C>G NP_001362536.1:p.Arg502Gly
NM_001375608.1:c.1261C>G NP_001362537.1:p.Arg421Gly
NM_001375609.1:c.1294C>G NP_001362538.1:p.Arg432Gly
NM_001375610.1:c.1312C>G NP_001362539.1:p.Arg438Gly
NM_001375611.1:c.1318C>G NP_001362540.1:p.Arg440Gly
NM_001375613.1:c.1318C>G NP_001362542.1:p.Arg440Gly