Canonical Allele Identifier: CA373441425
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37424885G>A , CM000671.2:g.37424885G>A GRCh38
NC_000009.11:g.37424882G>A , CM000671.1:g.37424882G>A GRCh37
NC_000009.10:g.37414882G>A NCBI36
NG_008135.1:g.7176G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.124G>A MANE Select ENSP00000313432.6:p.Ala42Thr
ENST00000318158.10:c.124G>A ENSP00000313432.6:p.Ala42Thr
ENST00000377824.8:n.161G>A
ENST00000460882.5:n.151G>A
ENST00000487399.5:n.133G>A
ENST00000491488.5:n.109+2052G>A
ENST00000493368.5:n.181G>A
ENST00000607784.1:c.124G>A ENSP00000475569.1:p.Ala42Thr
NM_012203.1:c.124G>A NP_036335.1:p.Ala42Thr
XM_005251631.1:c.83+2052G>A XP_005251688.1:n.83+2052G>A
XM_011518073.1:c.-639G>A XP_011516375.1:n.-639G>A
XR_929374.1:n.209G>A
XM_017015320.2:c.124G>A XP_016870809.1:p.Ala42Thr
XM_017015321.2:c.124G>A XP_016870810.1:p.Ala42Thr
XM_017015323.2:c.-639G>A XP_016870812.1:n.-639G>A
XM_024447716.1:c.397G>A XP_024303484.1:p.Ala133Thr
XM_024447717.1:c.397G>A XP_024303485.1:p.Ala133Thr
XR_002956828.1:n.412G>A
XR_002956829.1:n.412G>A
XR_002956830.1:n.183G>A
XR_002956831.1:n.138+2052G>A
XR_002956832.1:n.183G>A
NM_012203.2:c.124G>A MANE Select NP_036335.1:p.Ala42Thr