Canonical Allele Identifier: CA373444617
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37432138G>A , CM000671.2:g.37432138G>A GRCh38
NC_000009.11:g.37432135G>A , CM000671.1:g.37432135G>A GRCh37
NC_000009.10:g.37422135G>A NCBI36
NG_008135.1:g.14429G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.865G>A MANE Select ENSP00000313432.6:p.Val289Met
ENST00000318158.10:c.865G>A ENSP00000313432.6:p.Val289Met
ENST00000460882.5:n.892G>A
ENST00000480596.5:n.1566G>A
ENST00000482603.1:n.318G>A
ENST00000491488.5:n.570G>A
ENST00000494290.1:c.*51+987G>A ENSP00000432021.1:n.*51+987G>A
ENST00000497693.1:n.4433G>A
ENST00000512404.2:n.52G>A
ENST00000607784.1:c.865G>A ENSP00000475569.1:p.Gly289Ser
NM_012203.1:c.865G>A NP_036335.1:p.Val289Met
XM_005251631.1:c.544G>A XP_005251688.1:p.Val182Met
XM_011518073.1:c.463G>A XP_011516375.1:p.Val155Met
XM_017015320.2:c.865G>A XP_016870809.1:p.Asp289Asn
XM_017015321.2:c.865G>A XP_016870810.1:p.Asp289Asn
XM_017015323.2:c.463G>A XP_016870812.1:p.Asp155Asn
XM_024447716.1:c.1138G>A XP_024303484.1:p.Asp380Asn
XM_024447717.1:c.1138G>A XP_024303485.1:p.Asp380Asn
XR_002956828.1:n.1153G>A
XR_002956829.1:n.1153G>A
XR_002956830.1:n.2285G>A
XR_002956831.1:n.1960G>A
XR_002956832.1:n.1284G>A
NM_012203.2:c.865G>A MANE Select NP_036335.1:p.Val289Met