Canonical Allele Identifier: CA373443525
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429820A>C , CM000671.2:g.37429820A>C GRCh38
NC_000009.11:g.37429817A>C , CM000671.1:g.37429817A>C GRCh37
NC_000009.10:g.37419817A>C NCBI36
NG_008135.1:g.12111A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.582A>C MANE Select ENSP00000313432.6:p.Glu194Asp
ENST00000318158.10:c.582A>C ENSP00000313432.6:p.Glu194Asp
ENST00000377824.8:n.619A>C
ENST00000460882.5:n.609A>C
ENST00000480596.5:n.1283A>C
ENST00000482603.1:n.35A>C
ENST00000491488.5:n.287A>C
ENST00000494290.1:c.153A>C ENSP00000432021.1:p.Glu51Asp
ENST00000497693.1:n.2115A>C
ENST00000607784.1:c.582A>C ENSP00000475569.1:p.Glu194Asp
NM_012203.1:c.582A>C NP_036335.1:p.Glu194Asp
XM_005251631.1:c.261A>C XP_005251688.1:p.Glu87Asp
XM_011518073.1:c.180A>C XP_011516375.1:p.Glu60Asp
XR_929374.1:n.1027A>C
XM_017015320.2:c.582A>C XP_016870809.1:p.Glu194Asp
XM_017015321.2:c.582A>C XP_016870810.1:p.Glu194Asp
XM_017015323.2:c.180A>C XP_016870812.1:p.Glu60Asp
XM_024447716.1:c.855A>C XP_024303484.1:p.Glu285Asp
XM_024447717.1:c.855A>C XP_024303485.1:p.Glu285Asp
XR_002956828.1:n.870A>C
XR_002956829.1:n.870A>C
XR_002956830.1:n.641A>C
XR_002956831.1:n.316A>C
XR_002956832.1:n.1001A>C
NM_012203.2:c.582A>C MANE Select NP_036335.1:p.Glu194Asp