Canonical Allele Identifier: CA587804180
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1564298966
gnomAD v2: 9-37428464-C-G
gnomAD v3: 9-37428467-C-G
gnomAD v4: 9-37428467-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37428467C>G , CM000671.2:g.37428467C>G GRCh38
NC_000009.11:g.37428464C>G , CM000671.1:g.37428464C>G GRCh37
NC_000009.10:g.37418464C>G NCBI36
NG_008135.1:g.10758C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.405-17C>G MANE Select ENSP00000313432.6:n.405-17C>G
ENST00000318158.10:c.405-17C>G ENSP00000313432.6:n.405-17C>G
ENST00000377824.8:n.442-17C>G
ENST00000460882.5:n.432-17C>G
ENST00000491488.5:n.110-17C>G
ENST00000493368.5:n.462-17C>G
ENST00000497693.1:n.762C>G
ENST00000607784.1:c.405-17C>G ENSP00000475569.1:n.405-17C>G
NM_012203.1:c.405-17C>G NP_036335.1:n.405-17C>G
XM_005251631.1:c.84-17C>G XP_005251688.1:n.84-17C>G
XM_011518073.1:c.-358-17C>G XP_011516375.1:n.-358-17C>G
XR_929374.1:n.490-17C>G
XM_017015320.2:c.405-17C>G XP_016870809.1:n.405-17C>G
XM_017015321.2:c.405-17C>G XP_016870810.1:n.405-17C>G
XM_017015323.2:c.-358-17C>G XP_016870812.1:n.-358-17C>G
XM_024447716.1:c.678-17C>G XP_024303484.1:n.678-17C>G
XM_024447717.1:c.678-17C>G XP_024303485.1:n.678-17C>G
XR_002956828.1:n.693-17C>G
XR_002956829.1:n.693-17C>G
XR_002956830.1:n.464-17C>G
XR_002956831.1:n.139-17C>G
XR_002956832.1:n.464-17C>G
NM_012203.2:c.405-17C>G MANE Select NP_036335.1:n.405-17C>G