Canonical Allele Identifier: CA863718023
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1369071488
gnomAD v3: 9-37428431-C-G
gnomAD v4: 9-37428431-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37428431C>G , CM000671.2:g.37428431C>G GRCh38
NC_000009.11:g.37428428C>G , CM000671.1:g.37428428C>G GRCh37
NC_000009.10:g.37418428C>G NCBI36
NG_008135.1:g.10722C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.405-53C>G MANE Select ENSP00000313432.6:n.405-53C>G
ENST00000318158.10:c.405-53C>G ENSP00000313432.6:n.405-53C>G
ENST00000377824.8:n.442-53C>G
ENST00000460882.5:n.432-53C>G
ENST00000491488.5:n.110-53C>G
ENST00000493368.5:n.462-53C>G
ENST00000497693.1:n.726C>G
ENST00000607784.1:c.405-53C>G ENSP00000475569.1:n.405-53C>G
NM_012203.1:c.405-53C>G NP_036335.1:n.405-53C>G
XM_005251631.1:c.84-53C>G XP_005251688.1:n.84-53C>G
XM_011518073.1:c.-358-53C>G XP_011516375.1:n.-358-53C>G
XR_929374.1:n.490-53C>G
XM_017015320.2:c.405-53C>G XP_016870809.1:n.405-53C>G
XM_017015321.2:c.405-53C>G XP_016870810.1:n.405-53C>G
XM_017015323.2:c.-358-53C>G XP_016870812.1:n.-358-53C>G
XM_024447716.1:c.678-53C>G XP_024303484.1:n.678-53C>G
XM_024447717.1:c.678-53C>G XP_024303485.1:n.678-53C>G
XR_002956828.1:n.693-53C>G
XR_002956829.1:n.693-53C>G
XR_002956830.1:n.464-53C>G
XR_002956831.1:n.139-53C>G
XR_002956832.1:n.464-53C>G
NM_012203.2:c.405-53C>G MANE Select NP_036335.1:n.405-53C>G