Canonical Allele Identifier: CA348401161
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127426123A>G , CM000664.2:g.127426123A>G GRCh38
NC_000002.11:g.128183699A>G , CM000664.1:g.128183699A>G GRCh37
NC_000002.10:g.127900169A>G NCBI36
NG_016323.1:g.12704A>G , LRG_599:g.12704A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.574A>G MANE Select ENSP00000234071.4:p.Lys192Glu
ENST00000234071.7:c.574A>G ENSP00000234071.3:p.Lys192Glu
ENST00000402125.2:c.121-2234A>G
ENST00000409048.1:c.676A>G ENSP00000386679.1:p.Lys226Glu
ENST00000442644.5:c.517A>G ENSP00000411241.1:p.Lys173Glu
ENST00000464089.1:n.160A>G
NM_000312.3:c.574A>G , LRG_599t1:c.574A>G NP_000303.1:p.Lys192Glu
XM_005263715.3:c.757A>G XP_005263772.1:p.Lys253Glu
XM_005263716.3:c.739A>G XP_005263773.1:p.Lys247Glu
XM_005263717.3:c.637A>G XP_005263774.1:p.Lys213Glu
XM_005263717.4:c.637A>G XP_005263774.1:p.Lys213Glu
XM_017004505.1:c.817A>G XP_016859994.1:p.Lys273Glu
XM_024453002.1:c.919A>G XP_024308770.1:p.Lys307Glu
XM_024453003.1:c.859A>G XP_024308771.1:p.Lys287Glu
XM_024453004.1:c.757A>G XP_024308772.1:p.Lys253Glu
XM_024453005.1:c.739A>G XP_024308773.1:p.Lys247Glu
XM_024453006.1:c.676A>G XP_024308774.1:p.Lys226Glu
XR_923313.2:n.4462T>C
NM_000312.4:c.574A>G MANE Select NP_000303.1:p.Lys192Glu
NM_001375602.1:c.757A>G NP_001362531.1:p.Lys253Glu
NM_001375603.1:c.739A>G NP_001362532.1:p.Lys247Glu
NM_001375604.1:c.637A>G NP_001362533.1:p.Lys213Glu
NM_001375605.1:c.676A>G NP_001362534.1:p.Lys226Glu
NM_001375606.1:c.742A>G NP_001362535.1:p.Lys248Glu
NM_001375607.1:c.760A>G NP_001362536.1:p.Lys254Glu
NM_001375608.1:c.517A>G NP_001362537.1:p.Lys173Glu
NM_001375609.1:c.550A>G NP_001362538.1:p.Lys184Glu
NM_001375610.1:c.568A>G NP_001362539.1:p.Lys190Glu
NM_001375611.1:c.574A>G NP_001362540.1:p.Lys192Glu
NM_001375613.1:c.574A>G NP_001362542.1:p.Lys192Glu