Canonical Allele Identifier: CA373443597
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429834T>A , CM000671.2:g.37429834T>A GRCh38
NC_000009.11:g.37429831T>A , CM000671.1:g.37429831T>A GRCh37
NC_000009.10:g.37419831T>A NCBI36
NG_008135.1:g.12125T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.596T>A MANE Select ENSP00000313432.6:p.Phe199Tyr
ENST00000318158.10:c.596T>A ENSP00000313432.6:p.Phe199Tyr
ENST00000377824.8:n.633T>A
ENST00000460882.5:n.623T>A
ENST00000480596.5:n.1297T>A
ENST00000482603.1:n.49T>A
ENST00000491488.5:n.301T>A
ENST00000494290.1:c.167T>A ENSP00000432021.1:p.Phe56Tyr
ENST00000497693.1:n.2129T>A
ENST00000607784.1:c.596T>A ENSP00000475569.1:p.Phe199Tyr
NM_012203.1:c.596T>A NP_036335.1:p.Phe199Tyr
XM_005251631.1:c.275T>A XP_005251688.1:p.Phe92Tyr
XM_011518073.1:c.194T>A XP_011516375.1:p.Phe65Tyr
XR_929374.1:n.1041T>A
XM_017015320.2:c.596T>A XP_016870809.1:p.Phe199Tyr
XM_017015321.2:c.596T>A XP_016870810.1:p.Phe199Tyr
XM_017015323.2:c.194T>A XP_016870812.1:p.Phe65Tyr
XM_024447716.1:c.869T>A XP_024303484.1:p.Phe290Tyr
XM_024447717.1:c.869T>A XP_024303485.1:p.Phe290Tyr
XR_002956828.1:n.884T>A
XR_002956829.1:n.884T>A
XR_002956830.1:n.655T>A
XR_002956831.1:n.330T>A
XR_002956832.1:n.1015T>A
NM_012203.2:c.596T>A MANE Select NP_036335.1:p.Phe199Tyr