Canonical Allele Identifier: CA373445519
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436763C>A , CM000671.2:g.37436763C>A GRCh38
NC_000009.11:g.37436760C>A , CM000671.1:g.37436760C>A GRCh37
NC_000009.10:g.37426760C>A NCBI36
NG_008135.1:g.19054C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.968C>A MANE Select ENSP00000313432.6:p.Pro323His
ENST00000318158.10:c.968C>A ENSP00000313432.6:p.Pro323His
ENST00000460882.5:n.995C>A
ENST00000480596.5:n.1669C>A
ENST00000494290.1:c.*52-118C>A ENSP00000432021.1:n.*52-118C>A
ENST00000497693.1:n.4536C>A
NM_012203.1:c.968C>A NP_036335.1:p.Pro323His
XM_005251631.1:c.647C>A XP_005251688.1:p.Pro216His
XM_011518073.1:c.566C>A XP_011516375.1:p.Pro189His
XM_017015320.2:c.946-648C>A XP_016870809.1:n.946-648C>A
XM_017015321.2:c.866-648C>A XP_016870810.1:n.866-648C>A
XM_017015323.2:c.544-648C>A XP_016870812.1:n.544-648C>A
XM_024447716.1:c.1219-648C>A XP_024303484.1:n.1219-648C>A
XM_024447717.1:c.1139-648C>A XP_024303485.1:n.1139-648C>A
XR_002956828.1:n.1234-648C>A
XR_002956829.1:n.1154-648C>A
XR_002956830.1:n.2388C>A
XR_002956831.1:n.2063C>A
XR_002956832.1:n.1387C>A
NM_012203.2:c.968C>A MANE Select NP_036335.1:p.Pro323His