Canonical Allele Identifier: CA373445414
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436724C>G , CM000671.2:g.37436724C>G GRCh38
NC_000009.11:g.37436721C>G , CM000671.1:g.37436721C>G GRCh37
NC_000009.10:g.37426721C>G NCBI36
NG_008135.1:g.19015C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.929C>G MANE Select ENSP00000313432.6:p.Ala310Gly
ENST00000318158.10:c.929C>G ENSP00000313432.6:p.Ala310Gly
ENST00000460882.5:n.956C>G
ENST00000480596.5:n.1630C>G
ENST00000494290.1:c.*52-157C>G ENSP00000432021.1:n.*52-157C>G
ENST00000497693.1:n.4497C>G
NM_012203.1:c.929C>G NP_036335.1:p.Ala310Gly
XM_005251631.1:c.608C>G XP_005251688.1:p.Ala203Gly
XM_011518073.1:c.527C>G XP_011516375.1:p.Ala176Gly
XM_017015320.2:c.946-687C>G XP_016870809.1:n.946-687C>G
XM_017015321.2:c.866-687C>G XP_016870810.1:n.866-687C>G
XM_017015323.2:c.544-687C>G XP_016870812.1:n.544-687C>G
XM_024447716.1:c.1219-687C>G XP_024303484.1:n.1219-687C>G
XM_024447717.1:c.1139-687C>G XP_024303485.1:n.1139-687C>G
XR_002956828.1:n.1234-687C>G
XR_002956829.1:n.1154-687C>G
XR_002956830.1:n.2349C>G
XR_002956831.1:n.2024C>G
XR_002956832.1:n.1348C>G
NM_012203.2:c.929C>G MANE Select NP_036335.1:p.Ala310Gly