Canonical Allele Identifier: CA373442817
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37428554A>C , CM000671.2:g.37428554A>C GRCh38
NC_000009.11:g.37428551A>C , CM000671.1:g.37428551A>C GRCh37
NC_000009.10:g.37418551A>C NCBI36
NG_008135.1:g.10845A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.475A>C MANE Select ENSP00000313432.6:p.Ile159Leu
ENST00000318158.10:c.475A>C ENSP00000313432.6:p.Ile159Leu
ENST00000377824.8:n.512A>C
ENST00000460882.5:n.502A>C
ENST00000480596.5:n.17A>C
ENST00000491488.5:n.180A>C
ENST00000493368.5:n.532A>C
ENST00000497693.1:n.849A>C
ENST00000607784.1:c.475A>C ENSP00000475569.1:p.Ile159Leu
NM_012203.1:c.475A>C NP_036335.1:p.Ile159Leu
XM_005251631.1:c.154A>C XP_005251688.1:p.Ile52Leu
XM_011518073.1:c.-288A>C XP_011516375.1:n.-288A>C
XR_929374.1:n.560A>C
XM_017015320.2:c.475A>C XP_016870809.1:p.Ile159Leu
XM_017015321.2:c.475A>C XP_016870810.1:p.Ile159Leu
XM_017015323.2:c.-288A>C XP_016870812.1:n.-288A>C
XM_024447716.1:c.748A>C XP_024303484.1:p.Ile250Leu
XM_024447717.1:c.748A>C XP_024303485.1:p.Ile250Leu
XR_002956828.1:n.763A>C
XR_002956829.1:n.763A>C
XR_002956830.1:n.534A>C
XR_002956831.1:n.209A>C
XR_002956832.1:n.534A>C
NM_012203.2:c.475A>C MANE Select NP_036335.1:p.Ile159Leu