Canonical Allele Identifier: CA373442164
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37425948A>C , CM000671.2:g.37425948A>C GRCh38
NC_000009.11:g.37425945A>C , CM000671.1:g.37425945A>C GRCh37
NC_000009.10:g.37415945A>C NCBI36
NG_008135.1:g.8239A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.241A>C MANE Select ENSP00000313432.6:p.Met81Leu
ENST00000318158.10:c.241A>C ENSP00000313432.6:p.Met81Leu
ENST00000377824.8:n.278A>C
ENST00000460882.5:n.268A>C
ENST00000487399.5:n.250A>C
ENST00000491488.5:n.110-2536A>C
ENST00000493368.5:n.298A>C
ENST00000607784.1:c.241A>C ENSP00000475569.1:p.Met81Leu
NM_012203.1:c.241A>C NP_036335.1:p.Met81Leu
XM_005251631.1:c.84-2536A>C XP_005251688.1:n.84-2536A>C
XM_011518073.1:c.-522A>C XP_011516375.1:n.-522A>C
XR_929374.1:n.326A>C
XM_017015320.2:c.241A>C XP_016870809.1:p.Met81Leu
XM_017015321.2:c.241A>C XP_016870810.1:p.Met81Leu
XM_017015323.2:c.-522A>C XP_016870812.1:n.-522A>C
XM_024447716.1:c.514A>C XP_024303484.1:p.Met172Leu
XM_024447717.1:c.514A>C XP_024303485.1:p.Met172Leu
XR_002956828.1:n.529A>C
XR_002956829.1:n.529A>C
XR_002956830.1:n.300A>C
XR_002956831.1:n.139-2536A>C
XR_002956832.1:n.300A>C
NM_012203.2:c.241A>C MANE Select NP_036335.1:p.Met81Leu