Canonical Allele Identifier: CA373442473
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37426561C>G , CM000671.2:g.37426561C>G GRCh38
NC_000009.11:g.37426558C>G , CM000671.1:g.37426558C>G GRCh37
NC_000009.10:g.37416558C>G NCBI36
NG_008135.1:g.8852C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.311C>G MANE Select ENSP00000313432.6:p.Pro104Arg
ENST00000318158.10:c.311C>G ENSP00000313432.6:p.Pro104Arg
ENST00000377824.8:n.348C>G
ENST00000460882.5:n.338C>G
ENST00000487399.5:n.863C>G
ENST00000491488.5:n.110-1923C>G
ENST00000493368.5:n.368C>G
ENST00000607784.1:c.311C>G ENSP00000475569.1:p.Pro104Arg
NM_012203.1:c.311C>G NP_036335.1:p.Pro104Arg
XM_005251631.1:c.84-1923C>G XP_005251688.1:n.84-1923C>G
XM_011518073.1:c.-452C>G XP_011516375.1:n.-452C>G
XR_929374.1:n.396C>G
XM_017015320.2:c.311C>G XP_016870809.1:p.Pro104Arg
XM_017015321.2:c.311C>G XP_016870810.1:p.Pro104Arg
XM_017015323.2:c.-452C>G XP_016870812.1:n.-452C>G
XM_024447716.1:c.584C>G XP_024303484.1:p.Pro195Arg
XM_024447717.1:c.584C>G XP_024303485.1:p.Pro195Arg
XR_002956828.1:n.599C>G
XR_002956829.1:n.599C>G
XR_002956830.1:n.370C>G
XR_002956831.1:n.139-1923C>G
XR_002956832.1:n.370C>G
NM_012203.2:c.311C>G MANE Select NP_036335.1:p.Pro104Arg