Canonical Allele Identifier: CA373445331
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436683T>G , CM000671.2:g.37436683T>G GRCh38
NC_000009.11:g.37436680T>G , CM000671.1:g.37436680T>G GRCh37
NC_000009.10:g.37426680T>G NCBI36
NG_008135.1:g.18974T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.888T>G MANE Select ENSP00000313432.6:p.Ser296Arg
ENST00000318158.10:c.888T>G ENSP00000313432.6:p.Ser296Arg
ENST00000460882.5:n.915T>G
ENST00000480596.5:n.1589T>G
ENST00000491488.5:n.593T>G
ENST00000494290.1:c.*52-198T>G ENSP00000432021.1:n.*52-198T>G
ENST00000497693.1:n.4456T>G
NM_012203.1:c.888T>G NP_036335.1:p.Ser296Arg
XM_005251631.1:c.567T>G XP_005251688.1:p.Ser189Arg
XM_011518073.1:c.486T>G XP_011516375.1:p.Ser162Arg
XM_017015320.2:c.946-728T>G XP_016870809.1:n.946-728T>G
XM_017015321.2:c.866-728T>G XP_016870810.1:n.866-728T>G
XM_017015323.2:c.544-728T>G XP_016870812.1:n.544-728T>G
XM_024447716.1:c.1219-728T>G XP_024303484.1:n.1219-728T>G
XM_024447717.1:c.1139-728T>G XP_024303485.1:n.1139-728T>G
XR_002956828.1:n.1234-728T>G
XR_002956829.1:n.1154-728T>G
XR_002956830.1:n.2308T>G
XR_002956831.1:n.1983T>G
XR_002956832.1:n.1307T>G
NM_012203.2:c.888T>G MANE Select NP_036335.1:p.Ser296Arg