Canonical Allele Identifier: CA373444364
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37432019T>A , CM000671.2:g.37432019T>A GRCh38
NC_000009.11:g.37432016T>A , CM000671.1:g.37432016T>A GRCh37
NC_000009.10:g.37422016T>A NCBI36
NG_008135.1:g.14310T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.746T>A MANE Select ENSP00000313432.6:p.Val249Glu
ENST00000318158.10:c.746T>A ENSP00000313432.6:p.Val249Glu
ENST00000460882.5:n.773T>A
ENST00000480596.5:n.1447T>A
ENST00000482603.1:n.199T>A
ENST00000491488.5:n.451T>A
ENST00000494290.1:c.*51+868T>A ENSP00000432021.1:n.*51+868T>A
ENST00000497693.1:n.4314T>A
ENST00000607784.1:c.746T>A ENSP00000475569.1:p.Val249Glu
NM_012203.1:c.746T>A NP_036335.1:p.Val249Glu
XM_005251631.1:c.425T>A XP_005251688.1:p.Val142Glu
XM_011518073.1:c.344T>A XP_011516375.1:p.Val115Glu
XM_017015320.2:c.746T>A XP_016870809.1:p.Val249Glu
XM_017015321.2:c.746T>A XP_016870810.1:p.Val249Glu
XM_017015323.2:c.344T>A XP_016870812.1:p.Val115Glu
XM_024447716.1:c.1019T>A XP_024303484.1:p.Val340Glu
XM_024447717.1:c.1019T>A XP_024303485.1:p.Val340Glu
XR_002956828.1:n.1034T>A
XR_002956829.1:n.1034T>A
XR_002956830.1:n.2166T>A
XR_002956831.1:n.1841T>A
XR_002956832.1:n.1165T>A
NM_012203.2:c.746T>A MANE Select NP_036335.1:p.Val249Glu