Canonical Allele Identifier: CA373445337
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436687A>C , CM000671.2:g.37436687A>C GRCh38
NC_000009.11:g.37436684A>C , CM000671.1:g.37436684A>C GRCh37
NC_000009.10:g.37426684A>C NCBI36
NG_008135.1:g.18978A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.892A>C MANE Select ENSP00000313432.6:p.Thr298Pro
ENST00000318158.10:c.892A>C ENSP00000313432.6:p.Thr298Pro
ENST00000460882.5:n.919A>C
ENST00000480596.5:n.1593A>C
ENST00000491488.5:n.597A>C
ENST00000494290.1:c.*52-194A>C ENSP00000432021.1:n.*52-194A>C
ENST00000497693.1:n.4460A>C
NM_012203.1:c.892A>C NP_036335.1:p.Thr298Pro
XM_005251631.1:c.571A>C XP_005251688.1:p.Thr191Pro
XM_011518073.1:c.490A>C XP_011516375.1:p.Thr164Pro
XM_017015320.2:c.946-724A>C XP_016870809.1:n.946-724A>C
XM_017015321.2:c.866-724A>C XP_016870810.1:n.866-724A>C
XM_017015323.2:c.544-724A>C XP_016870812.1:n.544-724A>C
XM_024447716.1:c.1219-724A>C XP_024303484.1:n.1219-724A>C
XM_024447717.1:c.1139-724A>C XP_024303485.1:n.1139-724A>C
XR_002956828.1:n.1234-724A>C
XR_002956829.1:n.1154-724A>C
XR_002956830.1:n.2312A>C
XR_002956831.1:n.1987A>C
XR_002956832.1:n.1311A>C
NM_012203.2:c.892A>C MANE Select NP_036335.1:p.Thr298Pro