Canonical Allele Identifier: CA373445413
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.929C>A MANE Select ENSP00000313432.6:p.Ala310Asp
ENST00000318158.10:c.929C>A ENSP00000313432.6:p.Ala310Asp
ENST00000460882.5:n.956C>A
ENST00000480596.5:n.1630C>A
ENST00000494290.1:c.*52-157C>A ENSP00000432021.1:n.*52-157C>A
ENST00000497693.1:n.4497C>A
NM_012203.1:c.929C>A NP_036335.1:p.Ala310Asp
XM_005251631.1:c.608C>A XP_005251688.1:p.Ala203Asp
XM_011518073.1:c.527C>A XP_011516375.1:p.Ala176Asp
XM_017015320.2:c.946-687C>A XP_016870809.1:n.946-687C>A
XM_017015321.2:c.866-687C>A XP_016870810.1:n.866-687C>A
XM_017015323.2:c.544-687C>A XP_016870812.1:n.544-687C>A
XM_024447716.1:c.1219-687C>A XP_024303484.1:n.1219-687C>A
XM_024447717.1:c.1139-687C>A XP_024303485.1:n.1139-687C>A
XR_002956828.1:n.1234-687C>A
XR_002956829.1:n.1154-687C>A
XR_002956830.1:n.2349C>A
XR_002956831.1:n.2024C>A
XR_002956832.1:n.1348C>A
NM_012203.2:c.929C>A MANE Select NP_036335.1:p.Ala310Asp