Canonical Allele Identifier: CA465004107
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37429796-G-A
MyVariant Identifiers: chr9:g.37429793G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429796G>A , CM000671.2:g.37429796G>A GRCh38
NC_000009.11:g.37429793G>A , CM000671.1:g.37429793G>A GRCh37
NC_000009.10:g.37419793G>A NCBI36
NG_008135.1:g.12087G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.558G>A MANE Select ENSP00000313432.6:p.Gln186=
ENST00000318158.10:c.558G>A ENSP00000313432.6:p.Gln186=
ENST00000377824.8:n.595G>A
ENST00000460882.5:n.585G>A
ENST00000480596.5:n.1259G>A
ENST00000482603.1:n.11G>A
ENST00000491488.5:n.263G>A
ENST00000494290.1:c.129G>A ENSP00000432021.1:p.Gln43=
ENST00000497693.1:n.2091G>A
ENST00000607784.1:c.558G>A ENSP00000475569.1:p.Gln186=
NM_012203.1:c.558G>A NP_036335.1:p.Gln186=
XM_005251631.1:c.237G>A XP_005251688.1:p.Gln79=
XM_011518073.1:c.156G>A XP_011516375.1:p.Gln52=
XR_929374.1:n.1003G>A
XM_017015320.2:c.558G>A XP_016870809.1:p.Gln186=
XM_017015321.2:c.558G>A XP_016870810.1:p.Gln186=
XM_017015323.2:c.156G>A XP_016870812.1:p.Gln52=
XM_024447716.1:c.831G>A XP_024303484.1:p.Gln277=
XM_024447717.1:c.831G>A XP_024303485.1:p.Gln277=
XR_002956828.1:n.846G>A
XR_002956829.1:n.846G>A
XR_002956830.1:n.617G>A
XR_002956831.1:n.292G>A
XR_002956832.1:n.977G>A
NM_012203.2:c.558G>A MANE Select NP_036335.1:p.Gln186=