Canonical Allele Identifier: CA373442978
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429740A>C , CM000671.2:g.37429740A>C GRCh38
NC_000009.11:g.37429737A>C , CM000671.1:g.37429737A>C GRCh37
NC_000009.10:g.37419737A>C NCBI36
NG_008135.1:g.12031A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.502A>C MANE Select ENSP00000313432.6:p.Ile168Leu
ENST00000318158.10:c.502A>C ENSP00000313432.6:p.Ile168Leu
ENST00000377824.8:n.539A>C
ENST00000460882.5:n.529A>C
ENST00000480596.5:n.1203A>C
ENST00000491488.5:n.207A>C
ENST00000494290.1:c.73A>C ENSP00000432021.1:p.Ile25Leu
ENST00000497693.1:n.2035A>C
ENST00000607784.1:c.502A>C ENSP00000475569.1:p.Ile168Leu
NM_012203.1:c.502A>C NP_036335.1:p.Ile168Leu
XM_005251631.1:c.181A>C XP_005251688.1:p.Ile61Leu
XM_011518073.1:c.100A>C XP_011516375.1:p.Ile34Leu
XR_929374.1:n.947A>C
XM_017015320.2:c.502A>C XP_016870809.1:p.Ile168Leu
XM_017015321.2:c.502A>C XP_016870810.1:p.Ile168Leu
XM_017015323.2:c.100A>C XP_016870812.1:p.Ile34Leu
XM_024447716.1:c.775A>C XP_024303484.1:p.Ile259Leu
XM_024447717.1:c.775A>C XP_024303485.1:p.Ile259Leu
XR_002956828.1:n.790A>C
XR_002956829.1:n.790A>C
XR_002956830.1:n.561A>C
XR_002956831.1:n.236A>C
XR_002956832.1:n.921A>C
NM_012203.2:c.502A>C MANE Select NP_036335.1:p.Ile168Leu