Canonical Allele Identifier: CA373443299
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37429756-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429756A>G , CM000671.2:g.37429756A>G GRCh38
NC_000009.11:g.37429753A>G , CM000671.1:g.37429753A>G GRCh37
NC_000009.10:g.37419753A>G NCBI36
NG_008135.1:g.12047A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.518A>G MANE Select ENSP00000313432.6:p.Lys173Arg
ENST00000318158.10:c.518A>G ENSP00000313432.6:p.Lys173Arg
ENST00000377824.8:n.555A>G
ENST00000460882.5:n.545A>G
ENST00000480596.5:n.1219A>G
ENST00000491488.5:n.223A>G
ENST00000494290.1:c.89A>G ENSP00000432021.1:p.Lys30Arg
ENST00000497693.1:n.2051A>G
ENST00000607784.1:c.518A>G ENSP00000475569.1:p.Lys173Arg
NM_012203.1:c.518A>G NP_036335.1:p.Lys173Arg
XM_005251631.1:c.197A>G XP_005251688.1:p.Lys66Arg
XM_011518073.1:c.116A>G XP_011516375.1:p.Lys39Arg
XR_929374.1:n.963A>G
XM_017015320.2:c.518A>G XP_016870809.1:p.Lys173Arg
XM_017015321.2:c.518A>G XP_016870810.1:p.Lys173Arg
XM_017015323.2:c.116A>G XP_016870812.1:p.Lys39Arg
XM_024447716.1:c.791A>G XP_024303484.1:p.Lys264Arg
XM_024447717.1:c.791A>G XP_024303485.1:p.Lys264Arg
XR_002956828.1:n.806A>G
XR_002956829.1:n.806A>G
XR_002956830.1:n.577A>G
XR_002956831.1:n.252A>G
XR_002956832.1:n.937A>G
NM_012203.2:c.518A>G MANE Select NP_036335.1:p.Lys173Arg