Canonical Allele Identifier: CA373443354
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429772G>C , CM000671.2:g.37429772G>C GRCh38
NC_000009.11:g.37429769G>C , CM000671.1:g.37429769G>C GRCh37
NC_000009.10:g.37419769G>C NCBI36
NG_008135.1:g.12063G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.534G>C MANE Select ENSP00000313432.6:p.Gln178His
ENST00000318158.10:c.534G>C ENSP00000313432.6:p.Gln178His
ENST00000377824.8:n.571G>C
ENST00000460882.5:n.561G>C
ENST00000480596.5:n.1235G>C
ENST00000491488.5:n.239G>C
ENST00000494290.1:c.105G>C ENSP00000432021.1:p.Gln35His
ENST00000497693.1:n.2067G>C
ENST00000607784.1:c.534G>C ENSP00000475569.1:p.Gln178His
NM_012203.1:c.534G>C NP_036335.1:p.Gln178His
XM_005251631.1:c.213G>C XP_005251688.1:p.Gln71His
XM_011518073.1:c.132G>C XP_011516375.1:p.Gln44His
XR_929374.1:n.979G>C
XM_017015320.2:c.534G>C XP_016870809.1:p.Gln178His
XM_017015321.2:c.534G>C XP_016870810.1:p.Gln178His
XM_017015323.2:c.132G>C XP_016870812.1:p.Gln44His
XM_024447716.1:c.807G>C XP_024303484.1:p.Gln269His
XM_024447717.1:c.807G>C XP_024303485.1:p.Gln269His
XR_002956828.1:n.822G>C
XR_002956829.1:n.822G>C
XR_002956830.1:n.593G>C
XR_002956831.1:n.268G>C
XR_002956832.1:n.953G>C
NM_012203.2:c.534G>C MANE Select NP_036335.1:p.Gln178His