Canonical Allele Identifier: CA373443416
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429788G>T , CM000671.2:g.37429788G>T GRCh38
NC_000009.11:g.37429785G>T , CM000671.1:g.37429785G>T GRCh37
NC_000009.10:g.37419785G>T NCBI36
NG_008135.1:g.12079G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.550G>T MANE Select ENSP00000313432.6:p.Gly184Trp
ENST00000318158.10:c.550G>T ENSP00000313432.6:p.Gly184Trp
ENST00000377824.8:n.587G>T
ENST00000460882.5:n.577G>T
ENST00000480596.5:n.1251G>T
ENST00000482603.1:n.3G>T
ENST00000491488.5:n.255G>T
ENST00000494290.1:c.121G>T ENSP00000432021.1:p.Gly41Trp
ENST00000497693.1:n.2083G>T
ENST00000607784.1:c.550G>T ENSP00000475569.1:p.Gly184Trp
NM_012203.1:c.550G>T NP_036335.1:p.Gly184Trp
XM_005251631.1:c.229G>T XP_005251688.1:p.Gly77Trp
XM_011518073.1:c.148G>T XP_011516375.1:p.Gly50Trp
XR_929374.1:n.995G>T
XM_017015320.2:c.550G>T XP_016870809.1:p.Gly184Trp
XM_017015321.2:c.550G>T XP_016870810.1:p.Gly184Trp
XM_017015323.2:c.148G>T XP_016870812.1:p.Gly50Trp
XM_024447716.1:c.823G>T XP_024303484.1:p.Gly275Trp
XM_024447717.1:c.823G>T XP_024303485.1:p.Gly275Trp
XR_002956828.1:n.838G>T
XR_002956829.1:n.838G>T
XR_002956830.1:n.609G>T
XR_002956831.1:n.284G>T
XR_002956832.1:n.969G>T
NM_012203.2:c.550G>T MANE Select NP_036335.1:p.Gly184Trp