Canonical Allele Identifier: CA275871
Gene: GRHPR HGNC NCBI

Linked Data

ClinVar Variation Id: 204222
dbSNP Id: rs309459
gnomAD v2: 9-37429661-A-G
gnomAD v3: 9-37429664-A-G
gnomAD v4: 9-37429664-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429664A>G , CM000671.2:g.37429664A>G GRCh38
NC_000009.11:g.37429661A>G , CM000671.1:g.37429661A>G GRCh37
NC_000009.10:g.37419661A>G NCBI36
NG_008135.1:g.11955A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.494-68A>G MANE Select ENSP00000313432.6:n.494-68A>G
ENST00000318158.10:c.494-68A>G ENSP00000313432.6:n.494-68A>G
ENST00000377824.8:n.531-68A>G
ENST00000460882.5:n.521-68A>G
ENST00000480596.5:n.1127A>G
ENST00000491488.5:n.199-68A>G
ENST00000494290.1:c.-4A>G ENSP00000432021.1:n.-4A>G
ENST00000497693.1:n.1959A>G
ENST00000607784.1:c.494-68A>G ENSP00000475569.1:n.494-68A>G
NM_012203.1:c.494-68A>G NP_036335.1:n.494-68A>G
XM_005251631.1:c.173-68A>G XP_005251688.1:n.173-68A>G
XM_011518073.1:c.92-68A>G XP_011516375.1:n.92-68A>G
XR_929374.1:n.939-68A>G
XM_017015320.2:c.494-68A>G XP_016870809.1:n.494-68A>G
XM_017015321.2:c.494-68A>G XP_016870810.1:n.494-68A>G
XM_017015323.2:c.92-68A>G XP_016870812.1:n.92-68A>G
XM_024447716.1:c.767-68A>G XP_024303484.1:n.767-68A>G
XM_024447717.1:c.767-68A>G XP_024303485.1:n.767-68A>G
XR_002956828.1:n.782-68A>G
XR_002956829.1:n.782-68A>G
XR_002956830.1:n.553-68A>G
XR_002956831.1:n.228-68A>G
XR_002956832.1:n.913-68A>G
NM_012203.2:c.494-68A>G MANE Select NP_036335.1:n.494-68A>G