Canonical Allele Identifier: CA465004115
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1483540196
gnomAD v2: 9-37429808-A-G
gnomAD v4: 9-37429811-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429811A>G , CM000671.2:g.37429811A>G GRCh38
NC_000009.11:g.37429808A>G , CM000671.1:g.37429808A>G GRCh37
NC_000009.10:g.37419808A>G NCBI36
NG_008135.1:g.12102A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.573A>G MANE Select ENSP00000313432.6:p.Glu191=
ENST00000318158.10:c.573A>G ENSP00000313432.6:p.Glu191=
ENST00000377824.8:n.610A>G
ENST00000460882.5:n.600A>G
ENST00000480596.5:n.1274A>G
ENST00000482603.1:n.26A>G
ENST00000491488.5:n.278A>G
ENST00000494290.1:c.144A>G ENSP00000432021.1:p.Glu48=
ENST00000497693.1:n.2106A>G
ENST00000607784.1:c.573A>G ENSP00000475569.1:p.Glu191=
NM_012203.1:c.573A>G NP_036335.1:p.Glu191=
XM_005251631.1:c.252A>G XP_005251688.1:p.Glu84=
XM_011518073.1:c.171A>G XP_011516375.1:p.Glu57=
XR_929374.1:n.1018A>G
XM_017015320.2:c.573A>G XP_016870809.1:p.Glu191=
XM_017015321.2:c.573A>G XP_016870810.1:p.Glu191=
XM_017015323.2:c.171A>G XP_016870812.1:p.Glu57=
XM_024447716.1:c.846A>G XP_024303484.1:p.Glu282=
XM_024447717.1:c.846A>G XP_024303485.1:p.Glu282=
XR_002956828.1:n.861A>G
XR_002956829.1:n.861A>G
XR_002956830.1:n.632A>G
XR_002956831.1:n.307A>G
XR_002956832.1:n.992A>G
NM_012203.2:c.573A>G MANE Select NP_036335.1:p.Glu191=