Canonical Allele Identifier: CA373442415
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37426542A>G , CM000671.2:g.37426542A>G GRCh38
NC_000009.11:g.37426539A>G , CM000671.1:g.37426539A>G GRCh37
NC_000009.10:g.37416539A>G NCBI36
NG_008135.1:g.8833A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.292A>G MANE Select ENSP00000313432.6:p.Ile98Val
ENST00000318158.10:c.292A>G ENSP00000313432.6:p.Ile98Val
ENST00000377824.8:n.329A>G
ENST00000460882.5:n.319A>G
ENST00000487399.5:n.844A>G
ENST00000491488.5:n.110-1942A>G
ENST00000493368.5:n.349A>G
ENST00000607784.1:c.292A>G ENSP00000475569.1:p.Ile98Val
NM_012203.1:c.292A>G NP_036335.1:p.Ile98Val
XM_005251631.1:c.84-1942A>G XP_005251688.1:n.84-1942A>G
XM_011518073.1:c.-471A>G XP_011516375.1:n.-471A>G
XR_929374.1:n.377A>G
XM_017015320.2:c.292A>G XP_016870809.1:p.Ile98Val
XM_017015321.2:c.292A>G XP_016870810.1:p.Ile98Val
XM_017015323.2:c.-471A>G XP_016870812.1:n.-471A>G
XM_024447716.1:c.565A>G XP_024303484.1:p.Ile189Val
XM_024447717.1:c.565A>G XP_024303485.1:p.Ile189Val
XR_002956828.1:n.580A>G
XR_002956829.1:n.580A>G
XR_002956830.1:n.351A>G
XR_002956831.1:n.139-1942A>G
XR_002956832.1:n.351A>G
NM_012203.2:c.292A>G MANE Select NP_036335.1:p.Ile98Val