Canonical Allele Identifier: CA373443605
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429836G>A , CM000671.2:g.37429836G>A GRCh38
NC_000009.11:g.37429833G>A , CM000671.1:g.37429833G>A GRCh37
NC_000009.10:g.37419833G>A NCBI36
NG_008135.1:g.12127G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.598G>A MANE Select ENSP00000313432.6:p.Val200Met
ENST00000318158.10:c.598G>A ENSP00000313432.6:p.Val200Met
ENST00000377824.8:n.635G>A
ENST00000460882.5:n.625G>A
ENST00000480596.5:n.1299G>A
ENST00000482603.1:n.51G>A
ENST00000491488.5:n.303G>A
ENST00000494290.1:c.169G>A ENSP00000432021.1:p.Val57Met
ENST00000497693.1:n.2131G>A
ENST00000607784.1:c.598G>A ENSP00000475569.1:p.Val200Met
NM_012203.1:c.598G>A NP_036335.1:p.Val200Met
XM_005251631.1:c.277G>A XP_005251688.1:p.Val93Met
XM_011518073.1:c.196G>A XP_011516375.1:p.Val66Met
XR_929374.1:n.1043G>A
XM_017015320.2:c.598G>A XP_016870809.1:p.Val200Met
XM_017015321.2:c.598G>A XP_016870810.1:p.Val200Met
XM_017015323.2:c.196G>A XP_016870812.1:p.Val66Met
XM_024447716.1:c.871G>A XP_024303484.1:p.Val291Met
XM_024447717.1:c.871G>A XP_024303485.1:p.Val291Met
XR_002956828.1:n.886G>A
XR_002956829.1:n.886G>A
XR_002956830.1:n.657G>A
XR_002956831.1:n.332G>A
XR_002956832.1:n.1017G>A
NM_012203.2:c.598G>A MANE Select NP_036335.1:p.Val200Met