Canonical Allele Identifier: CA863720698
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1287901529
gnomAD v3: 9-37432265-G-A
gnomAD v4: 9-37432265-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37432265G>A , CM000671.2:g.37432265G>A GRCh38
NC_000009.11:g.37432262G>A , CM000671.1:g.37432262G>A GRCh37
NC_000009.10:g.37422262G>A NCBI36
NG_008135.1:g.14556G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.865+127G>A MANE Select ENSP00000313432.6:n.865+127G>A
ENST00000318158.10:c.865+127G>A ENSP00000313432.6:n.865+127G>A
ENST00000460882.5:n.892+127G>A
ENST00000480596.5:n.1566+127G>A
ENST00000482603.1:n.318+127G>A
ENST00000491488.5:n.570+127G>A
ENST00000494290.1:c.*51+1114G>A ENSP00000432021.1:n.*51+1114G>A
ENST00000497693.1:n.4433+127G>A
ENST00000512404.2:n.179G>A
ENST00000607784.1:c.865+127G>A ENSP00000475569.1:n.865+127G>A
NM_012203.1:c.865+127G>A NP_036335.1:n.865+127G>A
XM_005251631.1:c.544+127G>A XP_005251688.1:n.544+127G>A
XM_011518073.1:c.463+127G>A XP_011516375.1:n.463+127G>A
XM_017015320.2:c.865+127G>A XP_016870809.1:n.865+127G>A
XM_017015321.2:c.865+127G>A XP_016870810.1:n.865+127G>A
XM_017015323.2:c.463+127G>A XP_016870812.1:n.463+127G>A
XM_024447716.1:c.1138+127G>A XP_024303484.1:n.1138+127G>A
XM_024447717.1:c.1138+127G>A XP_024303485.1:n.1138+127G>A
XR_002956828.1:n.1153+127G>A
XR_002956829.1:n.1153+127G>A
XR_002956830.1:n.2285+127G>A
XR_002956831.1:n.1960+127G>A
XR_002956832.1:n.1284+127G>A
NM_012203.2:c.865+127G>A MANE Select NP_036335.1:n.865+127G>A