Canonical Allele Identifier: CA373443434
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429795A>C , CM000671.2:g.37429795A>C GRCh38
NC_000009.11:g.37429792A>C , CM000671.1:g.37429792A>C GRCh37
NC_000009.10:g.37419792A>C NCBI36
NG_008135.1:g.12086A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.557A>C MANE Select ENSP00000313432.6:p.Gln186Pro
ENST00000318158.10:c.557A>C ENSP00000313432.6:p.Gln186Pro
ENST00000377824.8:n.594A>C
ENST00000460882.5:n.584A>C
ENST00000480596.5:n.1258A>C
ENST00000482603.1:n.10A>C
ENST00000491488.5:n.262A>C
ENST00000494290.1:c.128A>C ENSP00000432021.1:p.Gln43Pro
ENST00000497693.1:n.2090A>C
ENST00000607784.1:c.557A>C ENSP00000475569.1:p.Gln186Pro
NM_012203.1:c.557A>C NP_036335.1:p.Gln186Pro
XM_005251631.1:c.236A>C XP_005251688.1:p.Gln79Pro
XM_011518073.1:c.155A>C XP_011516375.1:p.Gln52Pro
XR_929374.1:n.1002A>C
XM_017015320.2:c.557A>C XP_016870809.1:p.Gln186Pro
XM_017015321.2:c.557A>C XP_016870810.1:p.Gln186Pro
XM_017015323.2:c.155A>C XP_016870812.1:p.Gln52Pro
XM_024447716.1:c.830A>C XP_024303484.1:p.Gln277Pro
XM_024447717.1:c.830A>C XP_024303485.1:p.Gln277Pro
XR_002956828.1:n.845A>C
XR_002956829.1:n.845A>C
XR_002956830.1:n.616A>C
XR_002956831.1:n.291A>C
XR_002956832.1:n.976A>C
NM_012203.2:c.557A>C MANE Select NP_036335.1:p.Gln186Pro