Canonical Allele Identifier: CA373444401
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37432034T>A , CM000671.2:g.37432034T>A GRCh38
NC_000009.11:g.37432031T>A , CM000671.1:g.37432031T>A GRCh37
NC_000009.10:g.37422031T>A NCBI36
NG_008135.1:g.14325T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.761T>A MANE Select ENSP00000313432.6:p.Leu254Gln
ENST00000318158.10:c.761T>A ENSP00000313432.6:p.Leu254Gln
ENST00000460882.5:n.788T>A
ENST00000480596.5:n.1462T>A
ENST00000482603.1:n.214T>A
ENST00000491488.5:n.466T>A
ENST00000494290.1:c.*51+883T>A ENSP00000432021.1:n.*51+883T>A
ENST00000497693.1:n.4329T>A
ENST00000607784.1:c.761T>A ENSP00000475569.1:p.Leu254Gln
NM_012203.1:c.761T>A NP_036335.1:p.Leu254Gln
XM_005251631.1:c.440T>A XP_005251688.1:p.Leu147Gln
XM_011518073.1:c.359T>A XP_011516375.1:p.Leu120Gln
XM_017015320.2:c.761T>A XP_016870809.1:p.Leu254Gln
XM_017015321.2:c.761T>A XP_016870810.1:p.Leu254Gln
XM_017015323.2:c.359T>A XP_016870812.1:p.Leu120Gln
XM_024447716.1:c.1034T>A XP_024303484.1:p.Leu345Gln
XM_024447717.1:c.1034T>A XP_024303485.1:p.Leu345Gln
XR_002956828.1:n.1049T>A
XR_002956829.1:n.1049T>A
XR_002956830.1:n.2181T>A
XR_002956831.1:n.1856T>A
XR_002956832.1:n.1180T>A
NM_012203.2:c.761T>A MANE Select NP_036335.1:p.Leu254Gln