Canonical Allele Identifier: CA348400941
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127426088A>G , CM000664.2:g.127426088A>G GRCh38
NC_000002.11:g.128183664A>G , CM000664.1:g.128183664A>G GRCh37
NC_000002.10:g.127900134A>G NCBI36
NG_016323.1:g.12669A>G , LRG_599:g.12669A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.539A>G MANE Select ENSP00000234071.4:p.Lys180Arg
ENST00000234071.7:c.539A>G ENSP00000234071.3:p.Lys180Arg
ENST00000402125.2:c.121-2269A>G
ENST00000409048.1:c.641A>G ENSP00000386679.1:p.Lys214Arg
ENST00000442644.5:c.482A>G ENSP00000411241.1:p.Lys161Arg
ENST00000464089.1:n.125A>G
NM_000312.3:c.539A>G , LRG_599t1:c.539A>G NP_000303.1:p.Lys180Arg
XM_005263715.3:c.722A>G XP_005263772.1:p.Lys241Arg
XM_005263716.3:c.704A>G XP_005263773.1:p.Lys235Arg
XM_005263717.3:c.602A>G XP_005263774.1:p.Lys201Arg
XM_005263717.4:c.602A>G XP_005263774.1:p.Lys201Arg
XM_017004505.1:c.782A>G XP_016859994.1:p.Lys261Arg
XM_024453002.1:c.884A>G XP_024308770.1:p.Lys295Arg
XM_024453003.1:c.824A>G XP_024308771.1:p.Lys275Arg
XM_024453004.1:c.722A>G XP_024308772.1:p.Lys241Arg
XM_024453005.1:c.704A>G XP_024308773.1:p.Lys235Arg
XM_024453006.1:c.641A>G XP_024308774.1:p.Lys214Arg
XR_923313.2:n.4497T>C
NM_000312.4:c.539A>G MANE Select NP_000303.1:p.Lys180Arg
NM_001375602.1:c.722A>G NP_001362531.1:p.Lys241Arg
NM_001375603.1:c.704A>G NP_001362532.1:p.Lys235Arg
NM_001375604.1:c.602A>G NP_001362533.1:p.Lys201Arg
NM_001375605.1:c.641A>G NP_001362534.1:p.Lys214Arg
NM_001375606.1:c.707A>G NP_001362535.1:p.Lys236Arg
NM_001375607.1:c.725A>G NP_001362536.1:p.Lys242Arg
NM_001375608.1:c.482A>G NP_001362537.1:p.Lys161Arg
NM_001375609.1:c.515A>G NP_001362538.1:p.Lys172Arg
NM_001375610.1:c.533A>G NP_001362539.1:p.Lys178Arg
NM_001375611.1:c.539A>G NP_001362540.1:p.Lys180Arg
NM_001375613.1:c.539A>G NP_001362542.1:p.Lys180Arg