Canonical Allele Identifier: CA373444575
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37432117C>G , CM000671.2:g.37432117C>G GRCh38
NC_000009.11:g.37432114C>G , CM000671.1:g.37432114C>G GRCh37
NC_000009.10:g.37422114C>G NCBI36
NG_008135.1:g.14408C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.844C>G MANE Select ENSP00000313432.6:p.Leu282Val
ENST00000318158.10:c.844C>G ENSP00000313432.6:p.Leu282Val
ENST00000460882.5:n.871C>G
ENST00000480596.5:n.1545C>G
ENST00000482603.1:n.297C>G
ENST00000491488.5:n.549C>G
ENST00000494290.1:c.*51+966C>G ENSP00000432021.1:n.*51+966C>G
ENST00000497693.1:n.4412C>G
ENST00000512404.2:n.31C>G
ENST00000607784.1:c.844C>G ENSP00000475569.1:p.Leu282Val
NM_012203.1:c.844C>G NP_036335.1:p.Leu282Val
XM_005251631.1:c.523C>G XP_005251688.1:p.Leu175Val
XM_011518073.1:c.442C>G XP_011516375.1:p.Leu148Val
XM_017015320.2:c.844C>G XP_016870809.1:p.Leu282Val
XM_017015321.2:c.844C>G XP_016870810.1:p.Leu282Val
XM_017015323.2:c.442C>G XP_016870812.1:p.Leu148Val
XM_024447716.1:c.1117C>G XP_024303484.1:p.Leu373Val
XM_024447717.1:c.1117C>G XP_024303485.1:p.Leu373Val
XR_002956828.1:n.1132C>G
XR_002956829.1:n.1132C>G
XR_002956830.1:n.2264C>G
XR_002956831.1:n.1939C>G
XR_002956832.1:n.1263C>G
NM_012203.2:c.844C>G MANE Select NP_036335.1:p.Leu282Val