Canonical Allele Identifier: CA465003847
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37426544-C-A
MyVariant Identifiers: chr9:g.37426541C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37426544C>A , CM000671.2:g.37426544C>A GRCh38
NC_000009.11:g.37426541C>A , CM000671.1:g.37426541C>A GRCh37
NC_000009.10:g.37416541C>A NCBI36
NG_008135.1:g.8835C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.294C>A MANE Select ENSP00000313432.6:p.Ile98=
ENST00000318158.10:c.294C>A ENSP00000313432.6:p.Ile98=
ENST00000377824.8:n.331C>A
ENST00000460882.5:n.321C>A
ENST00000487399.5:n.846C>A
ENST00000491488.5:n.110-1940C>A
ENST00000493368.5:n.351C>A
ENST00000607784.1:c.294C>A ENSP00000475569.1:p.Ile98=
NM_012203.1:c.294C>A NP_036335.1:p.Ile98=
XM_005251631.1:c.84-1940C>A XP_005251688.1:n.84-1940C>A
XM_011518073.1:c.-469C>A XP_011516375.1:n.-469C>A
XR_929374.1:n.379C>A
XM_017015320.2:c.294C>A XP_016870809.1:p.Ile98=
XM_017015321.2:c.294C>A XP_016870810.1:p.Ile98=
XM_017015323.2:c.-469C>A XP_016870812.1:n.-469C>A
XM_024447716.1:c.567C>A XP_024303484.1:p.Ile189=
XM_024447717.1:c.567C>A XP_024303485.1:p.Ile189=
XR_002956828.1:n.582C>A
XR_002956829.1:n.582C>A
XR_002956830.1:n.353C>A
XR_002956831.1:n.139-1940C>A
XR_002956832.1:n.353C>A
NM_012203.2:c.294C>A MANE Select NP_036335.1:p.Ile98=