Canonical Allele Identifier: CA373444477
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37432069G>T , CM000671.2:g.37432069G>T GRCh38
NC_000009.11:g.37432066G>T , CM000671.1:g.37432066G>T GRCh37
NC_000009.10:g.37422066G>T NCBI36
NG_008135.1:g.14360G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.796G>T MANE Select ENSP00000313432.6:p.Ala266Ser
ENST00000318158.10:c.796G>T ENSP00000313432.6:p.Ala266Ser
ENST00000460882.5:n.823G>T
ENST00000480596.5:n.1497G>T
ENST00000482603.1:n.249G>T
ENST00000491488.5:n.501G>T
ENST00000494290.1:c.*51+918G>T ENSP00000432021.1:n.*51+918G>T
ENST00000497693.1:n.4364G>T
ENST00000607784.1:c.796G>T ENSP00000475569.1:p.Ala266Ser
NM_012203.1:c.796G>T NP_036335.1:p.Ala266Ser
XM_005251631.1:c.475G>T XP_005251688.1:p.Ala159Ser
XM_011518073.1:c.394G>T XP_011516375.1:p.Ala132Ser
XM_017015320.2:c.796G>T XP_016870809.1:p.Ala266Ser
XM_017015321.2:c.796G>T XP_016870810.1:p.Ala266Ser
XM_017015323.2:c.394G>T XP_016870812.1:p.Ala132Ser
XM_024447716.1:c.1069G>T XP_024303484.1:p.Ala357Ser
XM_024447717.1:c.1069G>T XP_024303485.1:p.Ala357Ser
XR_002956828.1:n.1084G>T
XR_002956829.1:n.1084G>T
XR_002956830.1:n.2216G>T
XR_002956831.1:n.1891G>T
XR_002956832.1:n.1215G>T
NM_012203.2:c.796G>T MANE Select NP_036335.1:p.Ala266Ser