Canonical Allele Identifier: CA373442615
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37426635G>C , CM000671.2:g.37426635G>C GRCh38
NC_000009.11:g.37426632G>C , CM000671.1:g.37426632G>C GRCh37
NC_000009.10:g.37416632G>C NCBI36
NG_008135.1:g.8926G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.385G>C MANE Select ENSP00000313432.6:p.Ala129Pro
ENST00000318158.10:c.385G>C ENSP00000313432.6:p.Ala129Pro
ENST00000377824.8:n.422G>C
ENST00000460882.5:n.412G>C
ENST00000487399.5:n.937G>C
ENST00000491488.5:n.110-1849G>C
ENST00000493368.5:n.442G>C
ENST00000607784.1:c.385G>C ENSP00000475569.1:p.Ala129Pro
NM_012203.1:c.385G>C NP_036335.1:p.Ala129Pro
XM_005251631.1:c.84-1849G>C XP_005251688.1:n.84-1849G>C
XM_011518073.1:c.-378G>C XP_011516375.1:n.-378G>C
XR_929374.1:n.470G>C
XM_017015320.2:c.385G>C XP_016870809.1:p.Ala129Pro
XM_017015321.2:c.385G>C XP_016870810.1:p.Ala129Pro
XM_017015323.2:c.-378G>C XP_016870812.1:n.-378G>C
XM_024447716.1:c.658G>C XP_024303484.1:p.Ala220Pro
XM_024447717.1:c.658G>C XP_024303485.1:p.Ala220Pro
XR_002956828.1:n.673G>C
XR_002956829.1:n.673G>C
XR_002956830.1:n.444G>C
XR_002956831.1:n.139-1849G>C
XR_002956832.1:n.444G>C
NM_012203.2:c.385G>C MANE Select NP_036335.1:p.Ala129Pro