Canonical Allele Identifier: CA863722956
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1311833883
gnomAD v3: 9-37436544-C-T
gnomAD v4: 9-37436544-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436544C>T , CM000671.2:g.37436544C>T GRCh38
NC_000009.11:g.37436541C>T , CM000671.1:g.37436541C>T GRCh37
NC_000009.10:g.37426541C>T NCBI36
NG_008135.1:g.18835C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.866-117C>T MANE Select ENSP00000313432.6:n.866-117C>T
ENST00000318158.10:c.866-117C>T ENSP00000313432.6:n.866-117C>T
ENST00000460882.5:n.893-117C>T
ENST00000480596.5:n.1567-117C>T
ENST00000491488.5:n.571-117C>T
ENST00000494290.1:c.*52-337C>T ENSP00000432021.1:n.*52-337C>T
ENST00000497693.1:n.4434-117C>T
NM_012203.1:c.866-117C>T NP_036335.1:n.866-117C>T
XM_005251631.1:c.545-117C>T XP_005251688.1:n.545-117C>T
XM_011518073.1:c.464-117C>T XP_011516375.1:n.464-117C>T
XM_017015320.2:c.946-867C>T XP_016870809.1:n.946-867C>T
XM_017015321.2:c.866-867C>T XP_016870810.1:n.866-867C>T
XM_017015323.2:c.544-867C>T XP_016870812.1:n.544-867C>T
XM_024447716.1:c.1219-867C>T XP_024303484.1:n.1219-867C>T
XM_024447717.1:c.1139-867C>T XP_024303485.1:n.1139-867C>T
XR_002956828.1:n.1234-867C>T
XR_002956829.1:n.1154-867C>T
XR_002956830.1:n.2286-117C>T
XR_002956831.1:n.1961-117C>T
XR_002956832.1:n.1285-117C>T
NM_012203.2:c.866-117C>T MANE Select NP_036335.1:n.866-117C>T