Canonical Allele Identifier: CA373443501
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429813C>G , CM000671.2:g.37429813C>G GRCh38
NC_000009.11:g.37429810C>G , CM000671.1:g.37429810C>G GRCh37
NC_000009.10:g.37419810C>G NCBI36
NG_008135.1:g.12104C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.575C>G MANE Select ENSP00000313432.6:p.Ala192Gly
ENST00000318158.10:c.575C>G ENSP00000313432.6:p.Ala192Gly
ENST00000377824.8:n.612C>G
ENST00000460882.5:n.602C>G
ENST00000480596.5:n.1276C>G
ENST00000482603.1:n.28C>G
ENST00000491488.5:n.280C>G
ENST00000494290.1:c.146C>G ENSP00000432021.1:p.Ala49Gly
ENST00000497693.1:n.2108C>G
ENST00000607784.1:c.575C>G ENSP00000475569.1:p.Ala192Gly
NM_012203.1:c.575C>G NP_036335.1:p.Ala192Gly
XM_005251631.1:c.254C>G XP_005251688.1:p.Ala85Gly
XM_011518073.1:c.173C>G XP_011516375.1:p.Ala58Gly
XR_929374.1:n.1020C>G
XM_017015320.2:c.575C>G XP_016870809.1:p.Ala192Gly
XM_017015321.2:c.575C>G XP_016870810.1:p.Ala192Gly
XM_017015323.2:c.173C>G XP_016870812.1:p.Ala58Gly
XM_024447716.1:c.848C>G XP_024303484.1:p.Ala283Gly
XM_024447717.1:c.848C>G XP_024303485.1:p.Ala283Gly
XR_002956828.1:n.863C>G
XR_002956829.1:n.863C>G
XR_002956830.1:n.634C>G
XR_002956831.1:n.309C>G
XR_002956832.1:n.994C>G
NM_012203.2:c.575C>G MANE Select NP_036335.1:p.Ala192Gly