Canonical Allele Identifier: CA192889457
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1040127385
gnomAD v3: 9-37428271-C-T
gnomAD v4: 9-37428271-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37428271C>T , CM000671.2:g.37428271C>T GRCh38
NC_000009.11:g.37428268C>T , CM000671.1:g.37428268C>T GRCh37
NC_000009.10:g.37418268C>T NCBI36
NG_008135.1:g.10562C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.405-213C>T MANE Select ENSP00000313432.6:n.405-213C>T
ENST00000318158.10:c.405-213C>T ENSP00000313432.6:n.405-213C>T
ENST00000377824.8:n.442-213C>T
ENST00000460882.5:n.432-213C>T
ENST00000491488.5:n.110-213C>T
ENST00000493368.5:n.462-213C>T
ENST00000497693.1:n.566C>T
ENST00000607784.1:c.405-213C>T ENSP00000475569.1:n.405-213C>T
NM_012203.1:c.405-213C>T NP_036335.1:n.405-213C>T
XM_005251631.1:c.84-213C>T XP_005251688.1:n.84-213C>T
XM_011518073.1:c.-358-213C>T XP_011516375.1:n.-358-213C>T
XR_929374.1:n.490-213C>T
XM_017015320.2:c.405-213C>T XP_016870809.1:n.405-213C>T
XM_017015321.2:c.405-213C>T XP_016870810.1:n.405-213C>T
XM_017015323.2:c.-358-213C>T XP_016870812.1:n.-358-213C>T
XM_024447716.1:c.678-213C>T XP_024303484.1:n.678-213C>T
XM_024447717.1:c.678-213C>T XP_024303485.1:n.678-213C>T
XR_002956828.1:n.693-213C>T
XR_002956829.1:n.693-213C>T
XR_002956830.1:n.464-213C>T
XR_002956831.1:n.139-213C>T
XR_002956832.1:n.464-213C>T
NM_012203.2:c.405-213C>T MANE Select NP_036335.1:n.405-213C>T