Canonical Allele Identifier: CA373443511
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429816C>G , CM000671.2:g.37429816C>G GRCh38
NC_000009.11:g.37429813C>G , CM000671.1:g.37429813C>G GRCh37
NC_000009.10:g.37419813C>G NCBI36
NG_008135.1:g.12107C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.578C>G MANE Select ENSP00000313432.6:p.Ala193Gly
ENST00000318158.10:c.578C>G ENSP00000313432.6:p.Ala193Gly
ENST00000377824.8:n.615C>G
ENST00000460882.5:n.605C>G
ENST00000480596.5:n.1279C>G
ENST00000482603.1:n.31C>G
ENST00000491488.5:n.283C>G
ENST00000494290.1:c.149C>G ENSP00000432021.1:p.Ala50Gly
ENST00000497693.1:n.2111C>G
ENST00000607784.1:c.578C>G ENSP00000475569.1:p.Ala193Gly
NM_012203.1:c.578C>G NP_036335.1:p.Ala193Gly
XM_005251631.1:c.257C>G XP_005251688.1:p.Ala86Gly
XM_011518073.1:c.176C>G XP_011516375.1:p.Ala59Gly
XR_929374.1:n.1023C>G
XM_017015320.2:c.578C>G XP_016870809.1:p.Ala193Gly
XM_017015321.2:c.578C>G XP_016870810.1:p.Ala193Gly
XM_017015323.2:c.176C>G XP_016870812.1:p.Ala59Gly
XM_024447716.1:c.851C>G XP_024303484.1:p.Ala284Gly
XM_024447717.1:c.851C>G XP_024303485.1:p.Ala284Gly
XR_002956828.1:n.866C>G
XR_002956829.1:n.866C>G
XR_002956830.1:n.637C>G
XR_002956831.1:n.312C>G
XR_002956832.1:n.997C>G
NM_012203.2:c.578C>G MANE Select NP_036335.1:p.Ala193Gly