Canonical Allele Identifier: CA373442961
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429735A>T , CM000671.2:g.37429735A>T GRCh38
NC_000009.11:g.37429732A>T , CM000671.1:g.37429732A>T GRCh37
NC_000009.10:g.37419732A>T NCBI36
NG_008135.1:g.12026A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.497A>T MANE Select ENSP00000313432.6:p.Gln166Leu
ENST00000318158.10:c.497A>T ENSP00000313432.6:p.Gln166Leu
ENST00000377824.8:n.534A>T
ENST00000460882.5:n.524A>T
ENST00000480596.5:n.1198A>T
ENST00000491488.5:n.202A>T
ENST00000494290.1:c.68A>T ENSP00000432021.1:p.Gln23Leu
ENST00000497693.1:n.2030A>T
ENST00000607784.1:c.497A>T ENSP00000475569.1:p.Gln166Leu
NM_012203.1:c.497A>T NP_036335.1:p.Gln166Leu
XM_005251631.1:c.176A>T XP_005251688.1:p.Gln59Leu
XM_011518073.1:c.95A>T XP_011516375.1:p.Gln32Leu
XR_929374.1:n.942A>T
XM_017015320.2:c.497A>T XP_016870809.1:p.Gln166Leu
XM_017015321.2:c.497A>T XP_016870810.1:p.Gln166Leu
XM_017015323.2:c.95A>T XP_016870812.1:p.Gln32Leu
XM_024447716.1:c.770A>T XP_024303484.1:p.Gln257Leu
XM_024447717.1:c.770A>T XP_024303485.1:p.Gln257Leu
XR_002956828.1:n.785A>T
XR_002956829.1:n.785A>T
XR_002956830.1:n.556A>T
XR_002956831.1:n.231A>T
XR_002956832.1:n.916A>T
NM_012203.2:c.497A>T MANE Select NP_036335.1:p.Gln166Leu