Canonical Allele Identifier: CA348404683
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428454T>G , CM000664.2:g.127428454T>G GRCh38
NC_000002.11:g.128186030T>G , CM000664.1:g.128186030T>G GRCh37
NC_000002.10:g.127902500T>G NCBI36
NG_016323.1:g.15035T>G , LRG_599:g.15035T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.894T>G MANE Select ENSP00000234071.4:p.Asn298Lys
ENST00000234071.7:c.894T>G ENSP00000234071.3:p.Asn298Lys
ENST00000402125.2:c.218T>G
ENST00000409048.1:c.996T>G ENSP00000386679.1:p.Asn332Lys
NM_000312.3:c.894T>G , LRG_599t1:c.894T>G NP_000303.1:p.Asn298Lys
XM_005263715.3:c.1077T>G XP_005263772.1:p.Asn359Lys
XM_005263716.3:c.1059T>G XP_005263773.1:p.Asn353Lys
XM_005263717.3:c.957T>G XP_005263774.1:p.Asn319Lys
XR_923313.1:n.1332-190A>C
XM_005263717.4:c.957T>G XP_005263774.1:p.Asn319Lys
XM_017004505.1:c.1137T>G XP_016859994.1:p.Asn379Lys
XM_024453002.1:c.1239T>G XP_024308770.1:p.Asn413Lys
XM_024453003.1:c.1179T>G XP_024308771.1:p.Asn393Lys
XM_024453004.1:c.1077T>G XP_024308772.1:p.Asn359Lys
XM_024453005.1:c.1059T>G XP_024308773.1:p.Asn353Lys
XM_024453006.1:c.996T>G XP_024308774.1:p.Asn332Lys
XR_001739705.1:n.3607-190A>C
XR_923313.2:n.4043-190A>C
NM_000312.4:c.894T>G MANE Select NP_000303.1:p.Asn298Lys
NM_001375602.1:c.1077T>G NP_001362531.1:p.Asn359Lys
NM_001375603.1:c.1059T>G NP_001362532.1:p.Asn353Lys
NM_001375604.1:c.957T>G NP_001362533.1:p.Asn319Lys
NM_001375605.1:c.996T>G NP_001362534.1:p.Asn332Lys
NM_001375606.1:c.1062T>G NP_001362535.1:p.Asn354Lys
NM_001375607.1:c.1080T>G NP_001362536.1:p.Asn360Lys
NM_001375608.1:c.837T>G NP_001362537.1:p.Asn279Lys
NM_001375609.1:c.870T>G NP_001362538.1:p.Asn290Lys
NM_001375610.1:c.888T>G NP_001362539.1:p.Asn296Lys
NM_001375611.1:c.894T>G NP_001362540.1:p.Asn298Lys
NM_001375613.1:c.894T>G NP_001362542.1:p.Asn298Lys