Canonical Allele Identifier: CA373442844
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37428569-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37428569A>G , CM000671.2:g.37428569A>G GRCh38
NC_000009.11:g.37428566A>G , CM000671.1:g.37428566A>G GRCh37
NC_000009.10:g.37418566A>G NCBI36
NG_008135.1:g.10860A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.490A>G MANE Select ENSP00000313432.6:p.Ile164Val
ENST00000318158.10:c.490A>G ENSP00000313432.6:p.Ile164Val
ENST00000377824.8:n.527A>G
ENST00000460882.5:n.517A>G
ENST00000480596.5:n.32A>G
ENST00000491488.5:n.195A>G
ENST00000493368.5:n.547A>G
ENST00000497693.1:n.864A>G
ENST00000607784.1:c.490A>G ENSP00000475569.1:p.Ile164Val
NM_012203.1:c.490A>G NP_036335.1:p.Ile164Val
XM_005251631.1:c.169A>G XP_005251688.1:p.Ile57Val
XM_011518073.1:c.-273A>G XP_011516375.1:n.-273A>G
XR_929374.1:n.575A>G
XM_017015320.2:c.490A>G XP_016870809.1:p.Ile164Val
XM_017015321.2:c.490A>G XP_016870810.1:p.Ile164Val
XM_017015323.2:c.-273A>G XP_016870812.1:n.-273A>G
XM_024447716.1:c.763A>G XP_024303484.1:p.Ile255Val
XM_024447717.1:c.763A>G XP_024303485.1:p.Ile255Val
XR_002956828.1:n.778A>G
XR_002956829.1:n.778A>G
XR_002956830.1:n.549A>G
XR_002956831.1:n.224A>G
XR_002956832.1:n.549A>G
NM_012203.2:c.490A>G MANE Select NP_036335.1:p.Ile164Val