Canonical Allele Identifier: CA373445405
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436720G>A , CM000671.2:g.37436720G>A GRCh38
NC_000009.11:g.37436717G>A , CM000671.1:g.37436717G>A GRCh37
NC_000009.10:g.37426717G>A NCBI36
NG_008135.1:g.19011G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.925G>A MANE Select ENSP00000313432.6:p.Ala309Thr
ENST00000318158.10:c.925G>A ENSP00000313432.6:p.Ala309Thr
ENST00000460882.5:n.952G>A
ENST00000480596.5:n.1626G>A
ENST00000494290.1:c.*52-161G>A ENSP00000432021.1:n.*52-161G>A
ENST00000497693.1:n.4493G>A
NM_012203.1:c.925G>A NP_036335.1:p.Ala309Thr
XM_005251631.1:c.604G>A XP_005251688.1:p.Ala202Thr
XM_011518073.1:c.523G>A XP_011516375.1:p.Ala175Thr
XM_017015320.2:c.946-691G>A XP_016870809.1:n.946-691G>A
XM_017015321.2:c.866-691G>A XP_016870810.1:n.866-691G>A
XM_017015323.2:c.544-691G>A XP_016870812.1:n.544-691G>A
XM_024447716.1:c.1219-691G>A XP_024303484.1:n.1219-691G>A
XM_024447717.1:c.1139-691G>A XP_024303485.1:n.1139-691G>A
XR_002956828.1:n.1234-691G>A
XR_002956829.1:n.1154-691G>A
XR_002956830.1:n.2345G>A
XR_002956831.1:n.2020G>A
XR_002956832.1:n.1344G>A
NM_012203.2:c.925G>A MANE Select NP_036335.1:p.Ala309Thr