Canonical Allele Identifier: CA373443452
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429800A>T , CM000671.2:g.37429800A>T GRCh38
NC_000009.11:g.37429797A>T , CM000671.1:g.37429797A>T GRCh37
NC_000009.10:g.37419797A>T NCBI36
NG_008135.1:g.12091A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.562A>T MANE Select ENSP00000313432.6:p.Arg188Trp
ENST00000318158.10:c.562A>T ENSP00000313432.6:p.Arg188Trp
ENST00000377824.8:n.599A>T
ENST00000460882.5:n.589A>T
ENST00000480596.5:n.1263A>T
ENST00000482603.1:n.15A>T
ENST00000491488.5:n.267A>T
ENST00000494290.1:c.133A>T ENSP00000432021.1:p.Arg45Trp
ENST00000497693.1:n.2095A>T
ENST00000607784.1:c.562A>T ENSP00000475569.1:p.Arg188Trp
NM_012203.1:c.562A>T NP_036335.1:p.Arg188Trp
XM_005251631.1:c.241A>T XP_005251688.1:p.Arg81Trp
XM_011518073.1:c.160A>T XP_011516375.1:p.Arg54Trp
XR_929374.1:n.1007A>T
XM_017015320.2:c.562A>T XP_016870809.1:p.Arg188Trp
XM_017015321.2:c.562A>T XP_016870810.1:p.Arg188Trp
XM_017015323.2:c.160A>T XP_016870812.1:p.Arg54Trp
XM_024447716.1:c.835A>T XP_024303484.1:p.Arg279Trp
XM_024447717.1:c.835A>T XP_024303485.1:p.Arg279Trp
XR_002956828.1:n.850A>T
XR_002956829.1:n.850A>T
XR_002956830.1:n.621A>T
XR_002956831.1:n.296A>T
XR_002956832.1:n.981A>T
NM_012203.2:c.562A>T MANE Select NP_036335.1:p.Arg188Trp