Canonical Allele Identifier: CA192888192
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs35975284
gnomAD v3: 9-37426555-A-G
gnomAD v4: 9-37426555-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37426555A>G , CM000671.2:g.37426555A>G GRCh38
NC_000009.11:g.37426552A>G , CM000671.1:g.37426552A>G GRCh37
NC_000009.10:g.37416552A>G NCBI36
NG_008135.1:g.8846A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.305A>G MANE Select ENSP00000313432.6:p.Tyr102Cys
ENST00000318158.10:c.305A>G ENSP00000313432.6:p.Tyr102Cys
ENST00000377824.8:n.342A>G
ENST00000460882.5:n.332A>G
ENST00000487399.5:n.857A>G
ENST00000491488.5:n.110-1929A>G
ENST00000493368.5:n.362A>G
ENST00000607784.1:c.305A>G ENSP00000475569.1:p.Tyr102Cys
NM_012203.1:c.305A>G NP_036335.1:p.Tyr102Cys
XM_005251631.1:c.84-1929A>G XP_005251688.1:n.84-1929A>G
XM_011518073.1:c.-458A>G XP_011516375.1:n.-458A>G
XR_929374.1:n.390A>G
XM_017015320.2:c.305A>G XP_016870809.1:p.Tyr102Cys
XM_017015321.2:c.305A>G XP_016870810.1:p.Tyr102Cys
XM_017015323.2:c.-458A>G XP_016870812.1:n.-458A>G
XM_024447716.1:c.578A>G XP_024303484.1:p.Tyr193Cys
XM_024447717.1:c.578A>G XP_024303485.1:p.Tyr193Cys
XR_002956828.1:n.593A>G
XR_002956829.1:n.593A>G
XR_002956830.1:n.364A>G
XR_002956831.1:n.139-1929A>G
XR_002956832.1:n.364A>G
NM_012203.2:c.305A>G MANE Select NP_036335.1:p.Tyr102Cys