Canonical Allele Identifier: CA373443475
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429806G>A , CM000671.2:g.37429806G>A GRCh38
NC_000009.11:g.37429803G>A , CM000671.1:g.37429803G>A GRCh37
NC_000009.10:g.37419803G>A NCBI36
NG_008135.1:g.12097G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.568G>A MANE Select ENSP00000313432.6:p.Glu190Lys
ENST00000318158.10:c.568G>A ENSP00000313432.6:p.Glu190Lys
ENST00000377824.8:n.605G>A
ENST00000460882.5:n.595G>A
ENST00000480596.5:n.1269G>A
ENST00000482603.1:n.21G>A
ENST00000491488.5:n.273G>A
ENST00000494290.1:c.139G>A ENSP00000432021.1:p.Glu47Lys
ENST00000497693.1:n.2101G>A
ENST00000607784.1:c.568G>A ENSP00000475569.1:p.Glu190Lys
NM_012203.1:c.568G>A NP_036335.1:p.Glu190Lys
XM_005251631.1:c.247G>A XP_005251688.1:p.Glu83Lys
XM_011518073.1:c.166G>A XP_011516375.1:p.Glu56Lys
XR_929374.1:n.1013G>A
XM_017015320.2:c.568G>A XP_016870809.1:p.Glu190Lys
XM_017015321.2:c.568G>A XP_016870810.1:p.Glu190Lys
XM_017015323.2:c.166G>A XP_016870812.1:p.Glu56Lys
XM_024447716.1:c.841G>A XP_024303484.1:p.Glu281Lys
XM_024447717.1:c.841G>A XP_024303485.1:p.Glu281Lys
XR_002956828.1:n.856G>A
XR_002956829.1:n.856G>A
XR_002956830.1:n.627G>A
XR_002956831.1:n.302G>A
XR_002956832.1:n.987G>A
NM_012203.2:c.568G>A MANE Select NP_036335.1:p.Glu190Lys