Canonical Allele Identifier: CA373443399
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429783A>T , CM000671.2:g.37429783A>T GRCh38
NC_000009.11:g.37429780A>T , CM000671.1:g.37429780A>T GRCh37
NC_000009.10:g.37419780A>T NCBI36
NG_008135.1:g.12074A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.545A>T MANE Select ENSP00000313432.6:p.Tyr182Phe
ENST00000318158.10:c.545A>T ENSP00000313432.6:p.Tyr182Phe
ENST00000377824.8:n.582A>T
ENST00000460882.5:n.572A>T
ENST00000480596.5:n.1246A>T
ENST00000491488.5:n.250A>T
ENST00000494290.1:c.116A>T ENSP00000432021.1:p.Tyr39Phe
ENST00000497693.1:n.2078A>T
ENST00000607784.1:c.545A>T ENSP00000475569.1:p.Tyr182Phe
NM_012203.1:c.545A>T NP_036335.1:p.Tyr182Phe
XM_005251631.1:c.224A>T XP_005251688.1:p.Tyr75Phe
XM_011518073.1:c.143A>T XP_011516375.1:p.Tyr48Phe
XR_929374.1:n.990A>T
XM_017015320.2:c.545A>T XP_016870809.1:p.Tyr182Phe
XM_017015321.2:c.545A>T XP_016870810.1:p.Tyr182Phe
XM_017015323.2:c.143A>T XP_016870812.1:p.Tyr48Phe
XM_024447716.1:c.818A>T XP_024303484.1:p.Tyr273Phe
XM_024447717.1:c.818A>T XP_024303485.1:p.Tyr273Phe
XR_002956828.1:n.833A>T
XR_002956829.1:n.833A>T
XR_002956830.1:n.604A>T
XR_002956831.1:n.279A>T
XR_002956832.1:n.964A>T
NM_012203.2:c.545A>T MANE Select NP_036335.1:p.Tyr182Phe