Canonical Allele Identifier: CA2689981072
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37429487-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429487C>A , CM000671.2:g.37429487C>A GRCh38
NC_000009.11:g.37429484C>A , CM000671.1:g.37429484C>A GRCh37
NC_000009.10:g.37419484C>A NCBI36
NG_008135.1:g.11778C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.494-245C>A MANE Select ENSP00000313432.6:n.494-245C>A
ENST00000318158.10:c.494-245C>A ENSP00000313432.6:n.494-245C>A
ENST00000377824.8:n.531-245C>A
ENST00000460882.5:n.521-245C>A
ENST00000480596.5:n.950C>A
ENST00000491488.5:n.199-245C>A
ENST00000494290.1:c.-181C>A ENSP00000432021.1:n.-181C>A
ENST00000497693.1:n.1782C>A
ENST00000607784.1:c.494-245C>A ENSP00000475569.1:n.494-245C>A
NM_012203.1:c.494-245C>A NP_036335.1:n.494-245C>A
XM_005251631.1:c.173-245C>A XP_005251688.1:n.173-245C>A
XM_011518073.1:c.92-245C>A XP_011516375.1:n.92-245C>A
XR_929374.1:n.939-245C>A
XM_017015320.2:c.494-245C>A XP_016870809.1:n.494-245C>A
XM_017015321.2:c.494-245C>A XP_016870810.1:n.494-245C>A
XM_017015323.2:c.92-245C>A XP_016870812.1:n.92-245C>A
XM_024447716.1:c.767-245C>A XP_024303484.1:n.767-245C>A
XM_024447717.1:c.767-245C>A XP_024303485.1:n.767-245C>A
XR_002956828.1:n.782-245C>A
XR_002956829.1:n.782-245C>A
XR_002956830.1:n.553-245C>A
XR_002956831.1:n.228-245C>A
XR_002956832.1:n.913-245C>A
NM_012203.2:c.494-245C>A MANE Select NP_036335.1:n.494-245C>A