Canonical Allele Identifier: CA587803190
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs764081167
gnomAD v2: 9-37422701-G-A
gnomAD v3: 9-37422704-G-A
gnomAD v4: 9-37422704-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37422704G>A , CM000671.2:g.37422704G>A GRCh38
NC_000009.11:g.37422701G>A , CM000671.1:g.37422701G>A GRCh37
NC_000009.10:g.37412701G>A NCBI36
NG_008135.1:g.4995G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.-47G>A MANE Select ENSP00000313432.6:n.-47G>A
ENST00000318158.10:c.-47G>A ENSP00000313432.6:n.-47G>A
ENST00000460882.5:n.9G>A
ENST00000493368.5:n.39G>A
XM_005251631.1:c.-47G>A XP_005251688.1:n.-47G>A
XR_929374.1:n.39G>A
XM_017015320.2:c.-47G>A XP_016870809.1:n.-47G>A
XM_017015321.2:c.-47G>A XP_016870810.1:n.-47G>A
XM_017015323.2:c.-809G>A XP_016870812.1:n.-809G>A
XM_024447716.1:c.255G>A XP_024303484.1:p.Pro85=
XM_024447717.1:c.255G>A XP_024303485.1:p.Pro85=
XR_002956828.1:n.270G>A
XR_002956829.1:n.270G>A
XR_002956830.1:n.13G>A
XR_002956831.1:n.9G>A
XR_002956832.1:n.13G>A
NM_012203.2:c.-47G>A MANE Select NP_036335.1:n.-47G>A