Canonical Allele Identifier: CA373445538
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436768G>A , CM000671.2:g.37436768G>A GRCh38
NC_000009.11:g.37436765G>A , CM000671.1:g.37436765G>A GRCh37
NC_000009.10:g.37426765G>A NCBI36
NG_008135.1:g.19059G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.973G>A MANE Select ENSP00000313432.6:p.Glu325Lys
ENST00000318158.10:c.973G>A ENSP00000313432.6:p.Glu325Lys
ENST00000460882.5:n.1000G>A
ENST00000480596.5:n.1674G>A
ENST00000494290.1:c.*52-113G>A ENSP00000432021.1:n.*52-113G>A
ENST00000497693.1:n.4541G>A
NM_012203.1:c.973G>A NP_036335.1:p.Glu325Lys
XM_005251631.1:c.652G>A XP_005251688.1:p.Glu218Lys
XM_011518073.1:c.571G>A XP_011516375.1:p.Glu191Lys
XM_017015320.2:c.946-643G>A XP_016870809.1:n.946-643G>A
XM_017015321.2:c.866-643G>A XP_016870810.1:n.866-643G>A
XM_017015323.2:c.544-643G>A XP_016870812.1:n.544-643G>A
XM_024447716.1:c.1219-643G>A XP_024303484.1:n.1219-643G>A
XM_024447717.1:c.1139-643G>A XP_024303485.1:n.1139-643G>A
XR_002956828.1:n.1234-643G>A
XR_002956829.1:n.1154-643G>A
XR_002956830.1:n.2393G>A
XR_002956831.1:n.2068G>A
XR_002956832.1:n.1392G>A
NM_012203.2:c.973G>A MANE Select NP_036335.1:p.Glu325Lys