Canonical Allele Identifier: CA1123328114

Gene: GRHPR

Linked Data

• dbSNP Id: rs1823407415
• gnomAD v3: 9-37432268-C-T
• gnomAD v4: 9-37432268-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37432268C>T , CM000671.2:g.37432268C>T	GRCh38
NC_000009.11:g.37432265C>T , CM000671.1:g.37432265C>T	GRCh37
NC_000009.10:g.37422265C>T	NCBI36
NG_008135.1:g.14559C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.865+130C>T MANE Select	ENSP00000313432.6:n.865+130C>T
ENST00000318158.10:c.865+130C>T	ENSP00000313432.6:n.865+130C>T
ENST00000460882.5:n.892+130C>T
ENST00000480596.5:n.1566+130C>T
ENST00000482603.1:n.318+130C>T
ENST00000491488.5:n.570+130C>T
ENST00000494290.1:c.*51+1117C>T	ENSP00000432021.1:n.*51+1117C>T
ENST00000497693.1:n.4433+130C>T
ENST00000512404.2:n.182C>T
ENST00000607784.1:c.865+130C>T	ENSP00000475569.1:n.865+130C>T
NM_012203.1:c.865+130C>T	NP_036335.1:n.865+130C>T
XM_005251631.1:c.544+130C>T	XP_005251688.1:n.544+130C>T
XM_011518073.1:c.463+130C>T	XP_011516375.1:n.463+130C>T
XM_017015320.2:c.865+130C>T	XP_016870809.1:n.865+130C>T
XM_017015321.2:c.865+130C>T	XP_016870810.1:n.865+130C>T
XM_017015323.2:c.463+130C>T	XP_016870812.1:n.463+130C>T
XM_024447716.1:c.1138+130C>T	XP_024303484.1:n.1138+130C>T
XM_024447717.1:c.1138+130C>T	XP_024303485.1:n.1138+130C>T
XR_002956828.1:n.1153+130C>T
XR_002956829.1:n.1153+130C>T
XR_002956830.1:n.2285+130C>T
XR_002956831.1:n.1960+130C>T
XR_002956832.1:n.1284+130C>T
NM_012203.2:c.865+130C>T MANE Select	NP_036335.1:n.865+130C>T