Canonical Allele Identifier: CA373442631
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37426643G>T , CM000671.2:g.37426643G>T GRCh38
NC_000009.11:g.37426640G>T , CM000671.1:g.37426640G>T GRCh37
NC_000009.10:g.37416640G>T NCBI36
NG_008135.1:g.8934G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.393G>T MANE Select ENSP00000313432.6:p.Glu131Asp
ENST00000318158.10:c.393G>T ENSP00000313432.6:p.Glu131Asp
ENST00000377824.8:n.430G>T
ENST00000460882.5:n.420G>T
ENST00000487399.5:n.945G>T
ENST00000491488.5:n.110-1841G>T
ENST00000493368.5:n.450G>T
ENST00000607784.1:c.393G>T ENSP00000475569.1:p.Glu131Asp
NM_012203.1:c.393G>T NP_036335.1:p.Glu131Asp
XM_005251631.1:c.84-1841G>T XP_005251688.1:n.84-1841G>T
XM_011518073.1:c.-370G>T XP_011516375.1:n.-370G>T
XR_929374.1:n.478G>T
XM_017015320.2:c.393G>T XP_016870809.1:p.Glu131Asp
XM_017015321.2:c.393G>T XP_016870810.1:p.Glu131Asp
XM_017015323.2:c.-370G>T XP_016870812.1:n.-370G>T
XM_024447716.1:c.666G>T XP_024303484.1:p.Glu222Asp
XM_024447717.1:c.666G>T XP_024303485.1:p.Glu222Asp
XR_002956828.1:n.681G>T
XR_002956829.1:n.681G>T
XR_002956830.1:n.452G>T
XR_002956831.1:n.139-1841G>T
XR_002956832.1:n.452G>T
NM_012203.2:c.393G>T MANE Select NP_036335.1:p.Glu131Asp