Canonical Allele Identifier: CA373441622
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37424940C>G , CM000671.2:g.37424940C>G GRCh38
NC_000009.11:g.37424937C>G , CM000671.1:g.37424937C>G GRCh37
NC_000009.10:g.37414937C>G NCBI36
NG_008135.1:g.7231C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.179C>G MANE Select ENSP00000313432.6:p.Ser60Cys
ENST00000318158.10:c.179C>G ENSP00000313432.6:p.Ser60Cys
ENST00000377824.8:n.216C>G
ENST00000460882.5:n.206C>G
ENST00000487399.5:n.188C>G
ENST00000491488.5:n.109+2107C>G
ENST00000493368.5:n.236C>G
ENST00000607784.1:c.179C>G ENSP00000475569.1:p.Ser60Cys
NM_012203.1:c.179C>G NP_036335.1:p.Ser60Cys
XM_005251631.1:c.83+2107C>G XP_005251688.1:n.83+2107C>G
XM_011518073.1:c.-584C>G XP_011516375.1:n.-584C>G
XR_929374.1:n.264C>G
XM_017015320.2:c.179C>G XP_016870809.1:p.Ser60Cys
XM_017015321.2:c.179C>G XP_016870810.1:p.Ser60Cys
XM_017015323.2:c.-584C>G XP_016870812.1:n.-584C>G
XM_024447716.1:c.452C>G XP_024303484.1:p.Ser151Cys
XM_024447717.1:c.452C>G XP_024303485.1:p.Ser151Cys
XR_002956828.1:n.467C>G
XR_002956829.1:n.467C>G
XR_002956830.1:n.238C>G
XR_002956831.1:n.138+2107C>G
XR_002956832.1:n.238C>G
NM_012203.2:c.179C>G MANE Select NP_036335.1:p.Ser60Cys