Canonical Allele Identifier: CA373443490
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.572A>T MANE Select ENSP00000313432.6:p.Glu191Val
ENST00000318158.10:c.572A>T ENSP00000313432.6:p.Glu191Val
ENST00000377824.8:n.609A>T
ENST00000460882.5:n.599A>T
ENST00000480596.5:n.1273A>T
ENST00000482603.1:n.25A>T
ENST00000491488.5:n.277A>T
ENST00000494290.1:c.143A>T ENSP00000432021.1:p.Glu48Val
ENST00000497693.1:n.2105A>T
ENST00000607784.1:c.572A>T ENSP00000475569.1:p.Glu191Val
NM_012203.1:c.572A>T NP_036335.1:p.Glu191Val
XM_005251631.1:c.251A>T XP_005251688.1:p.Glu84Val
XM_011518073.1:c.170A>T XP_011516375.1:p.Glu57Val
XR_929374.1:n.1017A>T
XM_017015320.2:c.572A>T XP_016870809.1:p.Glu191Val
XM_017015321.2:c.572A>T XP_016870810.1:p.Glu191Val
XM_017015323.2:c.170A>T XP_016870812.1:p.Glu57Val
XM_024447716.1:c.845A>T XP_024303484.1:p.Glu282Val
XM_024447717.1:c.845A>T XP_024303485.1:p.Glu282Val
XR_002956828.1:n.860A>T
XR_002956829.1:n.860A>T
XR_002956830.1:n.631A>T
XR_002956831.1:n.306A>T
XR_002956832.1:n.991A>T
NM_012203.2:c.572A>T MANE Select NP_036335.1:p.Glu191Val