Canonical Allele Identifier: CA373442831
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37428561T>C , CM000671.2:g.37428561T>C GRCh38
NC_000009.11:g.37428558T>C , CM000671.1:g.37428558T>C GRCh37
NC_000009.10:g.37418558T>C NCBI36
NG_008135.1:g.10852T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.482T>C MANE Select ENSP00000313432.6:p.Leu161Pro
ENST00000318158.10:c.482T>C ENSP00000313432.6:p.Leu161Pro
ENST00000377824.8:n.519T>C
ENST00000460882.5:n.509T>C
ENST00000480596.5:n.24T>C
ENST00000491488.5:n.187T>C
ENST00000493368.5:n.539T>C
ENST00000497693.1:n.856T>C
ENST00000607784.1:c.482T>C ENSP00000475569.1:p.Leu161Pro
NM_012203.1:c.482T>C NP_036335.1:p.Leu161Pro
XM_005251631.1:c.161T>C XP_005251688.1:p.Leu54Pro
XM_011518073.1:c.-281T>C XP_011516375.1:n.-281T>C
XR_929374.1:n.567T>C
XM_017015320.2:c.482T>C XP_016870809.1:p.Leu161Pro
XM_017015321.2:c.482T>C XP_016870810.1:p.Leu161Pro
XM_017015323.2:c.-281T>C XP_016870812.1:n.-281T>C
XM_024447716.1:c.755T>C XP_024303484.1:p.Leu252Pro
XM_024447717.1:c.755T>C XP_024303485.1:p.Leu252Pro
XR_002956828.1:n.770T>C
XR_002956829.1:n.770T>C
XR_002956830.1:n.541T>C
XR_002956831.1:n.216T>C
XR_002956832.1:n.541T>C
NM_012203.2:c.482T>C MANE Select NP_036335.1:p.Leu161Pro