Canonical Allele Identifier: CA373442608
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37426632G>T , CM000671.2:g.37426632G>T GRCh38
NC_000009.11:g.37426629G>T , CM000671.1:g.37426629G>T GRCh37
NC_000009.10:g.37416629G>T NCBI36
NG_008135.1:g.8923G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.382G>T MANE Select ENSP00000313432.6:p.Glu128Ter
ENST00000318158.10:c.382G>T ENSP00000313432.6:p.Glu128Ter
ENST00000377824.8:n.419G>T
ENST00000460882.5:n.409G>T
ENST00000487399.5:n.934G>T
ENST00000491488.5:n.110-1852G>T
ENST00000493368.5:n.439G>T
ENST00000607784.1:c.382G>T ENSP00000475569.1:p.Glu128Ter
NM_012203.1:c.382G>T NP_036335.1:p.Glu128Ter
XM_005251631.1:c.84-1852G>T XP_005251688.1:n.84-1852G>T
XM_011518073.1:c.-381G>T XP_011516375.1:n.-381G>T
XR_929374.1:n.467G>T
XM_017015320.2:c.382G>T XP_016870809.1:p.Glu128Ter
XM_017015321.2:c.382G>T XP_016870810.1:p.Glu128Ter
XM_017015323.2:c.-381G>T XP_016870812.1:n.-381G>T
XM_024447716.1:c.655G>T XP_024303484.1:p.Glu219Ter
XM_024447717.1:c.655G>T XP_024303485.1:p.Glu219Ter
XR_002956828.1:n.670G>T
XR_002956829.1:n.670G>T
XR_002956830.1:n.441G>T
XR_002956831.1:n.139-1852G>T
XR_002956832.1:n.441G>T
NM_012203.2:c.382G>T MANE Select NP_036335.1:p.Glu128Ter