Canonical Allele Identifier: CA373442597
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37426627T>A , CM000671.2:g.37426627T>A GRCh38
NC_000009.11:g.37426624T>A , CM000671.1:g.37426624T>A GRCh37
NC_000009.10:g.37416624T>A NCBI36
NG_008135.1:g.8918T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.377T>A MANE Select ENSP00000313432.6:p.Leu126Ter
ENST00000318158.10:c.377T>A ENSP00000313432.6:p.Leu126Ter
ENST00000377824.8:n.414T>A
ENST00000460882.5:n.404T>A
ENST00000487399.5:n.929T>A
ENST00000491488.5:n.110-1857T>A
ENST00000493368.5:n.434T>A
ENST00000607784.1:c.377T>A ENSP00000475569.1:p.Leu126Ter
NM_012203.1:c.377T>A NP_036335.1:p.Leu126Ter
XM_005251631.1:c.84-1857T>A XP_005251688.1:n.84-1857T>A
XM_011518073.1:c.-386T>A XP_011516375.1:n.-386T>A
XR_929374.1:n.462T>A
XM_017015320.2:c.377T>A XP_016870809.1:p.Leu126Ter
XM_017015321.2:c.377T>A XP_016870810.1:p.Leu126Ter
XM_017015323.2:c.-386T>A XP_016870812.1:n.-386T>A
XM_024447716.1:c.650T>A XP_024303484.1:p.Leu217Ter
XM_024447717.1:c.650T>A XP_024303485.1:p.Leu217Ter
XR_002956828.1:n.665T>A
XR_002956829.1:n.665T>A
XR_002956830.1:n.436T>A
XR_002956831.1:n.139-1857T>A
XR_002956832.1:n.436T>A
NM_012203.2:c.377T>A MANE Select NP_036335.1:p.Leu126Ter