Canonical Allele Identifier: CA1846870657
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1823275553
gnomAD v4: 9-37429843-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429843G>A , CM000671.2:g.37429843G>A GRCh38
NC_000009.11:g.37429840G>A , CM000671.1:g.37429840G>A GRCh37
NC_000009.10:g.37419840G>A NCBI36
NG_008135.1:g.12134G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.598+7G>A MANE Select ENSP00000313432.6:n.598+7G>A
ENST00000318158.10:c.598+7G>A ENSP00000313432.6:n.598+7G>A
ENST00000377824.8:n.635+7G>A
ENST00000460882.5:n.625+7G>A
ENST00000480596.5:n.1299+7G>A
ENST00000482603.1:n.51+7G>A
ENST00000491488.5:n.303+7G>A
ENST00000494290.1:c.169+7G>A ENSP00000432021.1:n.169+7G>A
ENST00000497693.1:n.2138G>A
ENST00000607784.1:c.598+7G>A ENSP00000475569.1:n.598+7G>A
NM_012203.1:c.598+7G>A NP_036335.1:n.598+7G>A
XM_005251631.1:c.277+7G>A XP_005251688.1:n.277+7G>A
XM_011518073.1:c.196+7G>A XP_011516375.1:n.196+7G>A
XR_929374.1:n.1043+7G>A
XM_017015320.2:c.598+7G>A XP_016870809.1:n.598+7G>A
XM_017015321.2:c.598+7G>A XP_016870810.1:n.598+7G>A
XM_017015323.2:c.196+7G>A XP_016870812.1:n.196+7G>A
XM_024447716.1:c.871+7G>A XP_024303484.1:n.871+7G>A
XM_024447717.1:c.871+7G>A XP_024303485.1:n.871+7G>A
XR_002956828.1:n.886+7G>A
XR_002956829.1:n.886+7G>A
XR_002956830.1:n.657+7G>A
XR_002956831.1:n.332+7G>A
XR_002956832.1:n.1017+7G>A
NM_012203.2:c.598+7G>A MANE Select NP_036335.1:n.598+7G>A