Canonical Allele Identifier: CA373443488
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429810A>C , CM000671.2:g.37429810A>C GRCh38
NC_000009.11:g.37429807A>C , CM000671.1:g.37429807A>C GRCh37
NC_000009.10:g.37419807A>C NCBI36
NG_008135.1:g.12101A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.572A>C MANE Select ENSP00000313432.6:p.Glu191Ala
ENST00000318158.10:c.572A>C ENSP00000313432.6:p.Glu191Ala
ENST00000377824.8:n.609A>C
ENST00000460882.5:n.599A>C
ENST00000480596.5:n.1273A>C
ENST00000482603.1:n.25A>C
ENST00000491488.5:n.277A>C
ENST00000494290.1:c.143A>C ENSP00000432021.1:p.Glu48Ala
ENST00000497693.1:n.2105A>C
ENST00000607784.1:c.572A>C ENSP00000475569.1:p.Glu191Ala
NM_012203.1:c.572A>C NP_036335.1:p.Glu191Ala
XM_005251631.1:c.251A>C XP_005251688.1:p.Glu84Ala
XM_011518073.1:c.170A>C XP_011516375.1:p.Glu57Ala
XR_929374.1:n.1017A>C
XM_017015320.2:c.572A>C XP_016870809.1:p.Glu191Ala
XM_017015321.2:c.572A>C XP_016870810.1:p.Glu191Ala
XM_017015323.2:c.170A>C XP_016870812.1:p.Glu57Ala
XM_024447716.1:c.845A>C XP_024303484.1:p.Glu282Ala
XM_024447717.1:c.845A>C XP_024303485.1:p.Glu282Ala
XR_002956828.1:n.860A>C
XR_002956829.1:n.860A>C
XR_002956830.1:n.631A>C
XR_002956831.1:n.306A>C
XR_002956832.1:n.991A>C
NM_012203.2:c.572A>C MANE Select NP_036335.1:p.Glu191Ala