Canonical Allele Identifier: CA373445334
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436684G>T , CM000671.2:g.37436684G>T GRCh38
NC_000009.11:g.37436681G>T , CM000671.1:g.37436681G>T GRCh37
NC_000009.10:g.37426681G>T NCBI36
NG_008135.1:g.18975G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.889G>T MANE Select ENSP00000313432.6:p.Ala297Ser
ENST00000318158.10:c.889G>T ENSP00000313432.6:p.Ala297Ser
ENST00000460882.5:n.916G>T
ENST00000480596.5:n.1590G>T
ENST00000491488.5:n.594G>T
ENST00000494290.1:c.*52-197G>T ENSP00000432021.1:n.*52-197G>T
ENST00000497693.1:n.4457G>T
NM_012203.1:c.889G>T NP_036335.1:p.Ala297Ser
XM_005251631.1:c.568G>T XP_005251688.1:p.Ala190Ser
XM_011518073.1:c.487G>T XP_011516375.1:p.Ala163Ser
XM_017015320.2:c.946-727G>T XP_016870809.1:n.946-727G>T
XM_017015321.2:c.866-727G>T XP_016870810.1:n.866-727G>T
XM_017015323.2:c.544-727G>T XP_016870812.1:n.544-727G>T
XM_024447716.1:c.1219-727G>T XP_024303484.1:n.1219-727G>T
XM_024447717.1:c.1139-727G>T XP_024303485.1:n.1139-727G>T
XR_002956828.1:n.1234-727G>T
XR_002956829.1:n.1154-727G>T
XR_002956830.1:n.2309G>T
XR_002956831.1:n.1984G>T
XR_002956832.1:n.1308G>T
NM_012203.2:c.889G>T MANE Select NP_036335.1:p.Ala297Ser