Canonical Allele Identifier: CA192896325
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs937750398
gnomAD v4: 9-37436828-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436828A>G , CM000671.2:g.37436828A>G GRCh38
NC_000009.11:g.37436825A>G , CM000671.1:g.37436825A>G GRCh37
NC_000009.10:g.37426825A>G NCBI36
NG_008135.1:g.19119A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.*46A>G MANE Select ENSP00000313432.6:n.*46A>G
ENST00000318158.10:c.*46A>G ENSP00000313432.6:n.*46A>G
ENST00000460882.5:n.1060A>G
ENST00000480596.5:n.1734A>G
ENST00000494290.1:c.*52-53A>G ENSP00000432021.1:n.*52-53A>G
ENST00000497693.1:n.4601A>G
NM_012203.1:c.*46A>G NP_036335.1:n.*46A>G
XM_005251631.1:c.*46A>G XP_005251688.1:n.*46A>G
XM_011518073.1:c.*46A>G XP_011516375.1:n.*46A>G
XM_017015320.2:c.946-583A>G XP_016870809.1:n.946-583A>G
XM_017015321.2:c.866-583A>G XP_016870810.1:n.866-583A>G
XM_017015323.2:c.544-583A>G XP_016870812.1:n.544-583A>G
XM_024447716.1:c.1219-583A>G XP_024303484.1:n.1219-583A>G
XM_024447717.1:c.1139-583A>G XP_024303485.1:n.1139-583A>G
XR_002956828.1:n.1234-583A>G
XR_002956829.1:n.1154-583A>G
XR_002956830.1:n.2453A>G
XR_002956831.1:n.2128A>G
XR_002956832.1:n.1452A>G
NM_012203.2:c.*46A>G MANE Select NP_036335.1:n.*46A>G