Canonical Allele Identifier: CA5059343
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs764762587
gnomAD v2: 9-37436709-C-G
gnomAD v4: 9-37436712-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436712C>G , CM000671.2:g.37436712C>G GRCh38
NC_000009.11:g.37436709C>G , CM000671.1:g.37436709C>G GRCh37
NC_000009.10:g.37426709C>G NCBI36
NG_008135.1:g.19003C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.917C>G MANE Select ENSP00000313432.6:p.Ser306Cys
ENST00000318158.10:c.917C>G ENSP00000313432.6:p.Ser306Cys
ENST00000460882.5:n.944C>G
ENST00000480596.5:n.1618C>G
ENST00000494290.1:c.*52-169C>G ENSP00000432021.1:n.*52-169C>G
ENST00000497693.1:n.4485C>G
NM_012203.1:c.917C>G NP_036335.1:p.Ser306Cys
XM_005251631.1:c.596C>G XP_005251688.1:p.Ser199Cys
XM_011518073.1:c.515C>G XP_011516375.1:p.Ser172Cys
XM_017015320.2:c.946-699C>G XP_016870809.1:n.946-699C>G
XM_017015321.2:c.866-699C>G XP_016870810.1:n.866-699C>G
XM_017015323.2:c.544-699C>G XP_016870812.1:n.544-699C>G
XM_024447716.1:c.1219-699C>G XP_024303484.1:n.1219-699C>G
XM_024447717.1:c.1139-699C>G XP_024303485.1:n.1139-699C>G
XR_002956828.1:n.1234-699C>G
XR_002956829.1:n.1154-699C>G
XR_002956830.1:n.2337C>G
XR_002956831.1:n.2012C>G
XR_002956832.1:n.1336C>G
NM_012203.2:c.917C>G MANE Select NP_036335.1:p.Ser306Cys