Canonical Allele Identifier: CA373441566
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37424925T>A , CM000671.2:g.37424925T>A GRCh38
NC_000009.11:g.37424922T>A , CM000671.1:g.37424922T>A GRCh37
NC_000009.10:g.37414922T>A NCBI36
NG_008135.1:g.7216T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.164T>A MANE Select ENSP00000313432.6:p.Leu55Gln
ENST00000318158.10:c.164T>A ENSP00000313432.6:p.Leu55Gln
ENST00000377824.8:n.201T>A
ENST00000460882.5:n.191T>A
ENST00000487399.5:n.173T>A
ENST00000491488.5:n.109+2092T>A
ENST00000493368.5:n.221T>A
ENST00000607784.1:c.164T>A ENSP00000475569.1:p.Leu55Gln
NM_012203.1:c.164T>A NP_036335.1:p.Leu55Gln
XM_005251631.1:c.83+2092T>A XP_005251688.1:n.83+2092T>A
XM_011518073.1:c.-599T>A XP_011516375.1:n.-599T>A
XR_929374.1:n.249T>A
XM_017015320.2:c.164T>A XP_016870809.1:p.Leu55Gln
XM_017015321.2:c.164T>A XP_016870810.1:p.Leu55Gln
XM_017015323.2:c.-599T>A XP_016870812.1:n.-599T>A
XM_024447716.1:c.437T>A XP_024303484.1:p.Leu146Gln
XM_024447717.1:c.437T>A XP_024303485.1:p.Leu146Gln
XR_002956828.1:n.452T>A
XR_002956829.1:n.452T>A
XR_002956830.1:n.223T>A
XR_002956831.1:n.138+2092T>A
XR_002956832.1:n.223T>A
NM_012203.2:c.164T>A MANE Select NP_036335.1:p.Leu55Gln