Canonical Allele Identifier: CA192886922
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs556194315
gnomAD v2: 9-37424735-C-G
gnomAD v3: 9-37424738-C-G
gnomAD v4: 9-37424738-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37424738C>G , CM000671.2:g.37424738C>G GRCh38
NC_000009.11:g.37424735C>G , CM000671.1:g.37424735C>G GRCh37
NC_000009.10:g.37414735C>G NCBI36
NG_008135.1:g.7029C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.84-107C>G MANE Select ENSP00000313432.6:n.84-107C>G
ENST00000318158.10:c.84-107C>G ENSP00000313432.6:n.84-107C>G
ENST00000377824.8:n.121-107C>G
ENST00000460882.5:n.111-107C>G
ENST00000487399.5:n.93-107C>G
ENST00000491488.5:n.109+1905C>G
ENST00000493368.5:n.141-107C>G
ENST00000607784.1:c.84-107C>G ENSP00000475569.1:n.84-107C>G
NM_012203.1:c.84-107C>G NP_036335.1:n.84-107C>G
XM_005251631.1:c.83+1905C>G XP_005251688.1:n.83+1905C>G
XM_011518073.1:c.-679-107C>G XP_011516375.1:n.-679-107C>G
XR_929374.1:n.169-107C>G
XM_017015320.2:c.84-107C>G XP_016870809.1:n.84-107C>G
XM_017015321.2:c.84-107C>G XP_016870810.1:n.84-107C>G
XM_017015323.2:c.-679-107C>G XP_016870812.1:n.-679-107C>G
XM_024447716.1:c.357-107C>G XP_024303484.1:n.357-107C>G
XM_024447717.1:c.357-107C>G XP_024303485.1:n.357-107C>G
XR_002956828.1:n.372-107C>G
XR_002956829.1:n.372-107C>G
XR_002956830.1:n.143-107C>G
XR_002956831.1:n.138+1905C>G
XR_002956832.1:n.143-107C>G
NM_012203.2:c.84-107C>G MANE Select NP_036335.1:n.84-107C>G