Canonical Allele Identifier: CA373445459
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1823679695

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436745T>C , CM000671.2:g.37436745T>C GRCh38
NC_000009.11:g.37436742T>C , CM000671.1:g.37436742T>C GRCh37
NC_000009.10:g.37426742T>C NCBI36
NG_008135.1:g.19036T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.950T>C MANE Select ENSP00000313432.6:p.Leu317Pro
ENST00000318158.10:c.950T>C ENSP00000313432.6:p.Leu317Pro
ENST00000460882.5:n.977T>C
ENST00000480596.5:n.1651T>C
ENST00000494290.1:c.*52-136T>C ENSP00000432021.1:n.*52-136T>C
ENST00000497693.1:n.4518T>C
NM_012203.1:c.950T>C NP_036335.1:p.Leu317Pro
XM_005251631.1:c.629T>C XP_005251688.1:p.Leu210Pro
XM_011518073.1:c.548T>C XP_011516375.1:p.Leu183Pro
XM_017015320.2:c.946-666T>C XP_016870809.1:n.946-666T>C
XM_017015321.2:c.866-666T>C XP_016870810.1:n.866-666T>C
XM_017015323.2:c.544-666T>C XP_016870812.1:n.544-666T>C
XM_024447716.1:c.1219-666T>C XP_024303484.1:n.1219-666T>C
XM_024447717.1:c.1139-666T>C XP_024303485.1:n.1139-666T>C
XR_002956828.1:n.1234-666T>C
XR_002956829.1:n.1154-666T>C
XR_002956830.1:n.2370T>C
XR_002956831.1:n.2045T>C
XR_002956832.1:n.1369T>C
NM_012203.2:c.950T>C MANE Select NP_036335.1:p.Leu317Pro