Canonical Allele Identifier: CA253540
Gene: GRHPR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5637
dbSNP Id: rs119490108

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37426545C>T , CM000671.2:g.37426545C>T GRCh38
NC_000009.11:g.37426542C>T , CM000671.1:g.37426542C>T GRCh37
NC_000009.10:g.37416542C>T NCBI36
NG_008135.1:g.8836C>T

Transcript Alleles

HGVS Amino-acid change
NM_012203.1:c.295C>T VV NP_036335.1:p.Arg99Ter
XM_005251631.1:c.84-1939C>T XP_005251688.1:p.=
XM_011518073.1:c.-468C>T XP_011516375.1:p.=
XR_929374.1:n.380C>T
XM_017015320.2:c.295C>T XP_016870809.1:p.Arg99Ter
XM_017015321.2:c.295C>T XP_016870810.1:p.Arg99Ter
XM_017015323.2:c.-468C>T XP_016870812.1:p.=
XM_024447716.1:c.568C>T XP_024303484.1:p.Arg190Ter
XM_024447717.1:c.568C>T XP_024303485.1:p.Arg190Ter
XR_002956828.1:n.583C>T
XR_002956829.1:n.583C>T
XR_002956830.1:n.354C>T
XR_002956831.1:n.139-1939C>T
XR_002956832.1:n.354C>T
NM_012203.2:c.295C>T VV MANE Preferred NP_036335.1:p.Arg99Ter
ENST00000318158.10:c.295C>T ENSP00000313432.6:p.Arg99Ter
ENST00000377824.8:n.332C>T
ENST00000460882.5:n.322C>T
ENST00000487399.5:n.847C>T
ENST00000491488.5:n.110-1939C>T
ENST00000493368.5:n.352C>T
ENST00000607784.1:c.295C>T ENSP00000475569.1:p.Arg99Ter