Canonical Allele Identifier: CA373441445
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37424891G>C , CM000671.2:g.37424891G>C GRCh38
NC_000009.11:g.37424888G>C , CM000671.1:g.37424888G>C GRCh37
NC_000009.10:g.37414888G>C NCBI36
NG_008135.1:g.7182G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.130G>C MANE Select ENSP00000313432.6:p.Glu44Gln
ENST00000318158.10:c.130G>C ENSP00000313432.6:p.Glu44Gln
ENST00000377824.8:n.167G>C
ENST00000460882.5:n.157G>C
ENST00000487399.5:n.139G>C
ENST00000491488.5:n.109+2058G>C
ENST00000493368.5:n.187G>C
ENST00000607784.1:c.130G>C ENSP00000475569.1:p.Glu44Gln
NM_012203.1:c.130G>C NP_036335.1:p.Glu44Gln
XM_005251631.1:c.83+2058G>C XP_005251688.1:n.83+2058G>C
XM_011518073.1:c.-633G>C XP_011516375.1:n.-633G>C
XR_929374.1:n.215G>C
XM_017015320.2:c.130G>C XP_016870809.1:p.Glu44Gln
XM_017015321.2:c.130G>C XP_016870810.1:p.Glu44Gln
XM_017015323.2:c.-633G>C XP_016870812.1:n.-633G>C
XM_024447716.1:c.403G>C XP_024303484.1:p.Glu135Gln
XM_024447717.1:c.403G>C XP_024303485.1:p.Glu135Gln
XR_002956828.1:n.418G>C
XR_002956829.1:n.418G>C
XR_002956830.1:n.189G>C
XR_002956831.1:n.138+2058G>C
XR_002956832.1:n.189G>C
NM_012203.2:c.130G>C MANE Select NP_036335.1:p.Glu44Gln