Canonical Allele Identifier: CA373444513
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37432088G>C , CM000671.2:g.37432088G>C GRCh38
NC_000009.11:g.37432085G>C , CM000671.1:g.37432085G>C GRCh37
NC_000009.10:g.37422085G>C NCBI36
NG_008135.1:g.14379G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.815G>C MANE Select ENSP00000313432.6:p.Ser272Thr
ENST00000318158.10:c.815G>C ENSP00000313432.6:p.Ser272Thr
ENST00000460882.5:n.842G>C
ENST00000480596.5:n.1516G>C
ENST00000482603.1:n.268G>C
ENST00000491488.5:n.520G>C
ENST00000494290.1:c.*51+937G>C ENSP00000432021.1:n.*51+937G>C
ENST00000497693.1:n.4383G>C
ENST00000512404.2:n.2G>C
ENST00000607784.1:c.815G>C ENSP00000475569.1:p.Ser272Thr
NM_012203.1:c.815G>C NP_036335.1:p.Ser272Thr
XM_005251631.1:c.494G>C XP_005251688.1:p.Ser165Thr
XM_011518073.1:c.413G>C XP_011516375.1:p.Ser138Thr
XM_017015320.2:c.815G>C XP_016870809.1:p.Ser272Thr
XM_017015321.2:c.815G>C XP_016870810.1:p.Ser272Thr
XM_017015323.2:c.413G>C XP_016870812.1:p.Ser138Thr
XM_024447716.1:c.1088G>C XP_024303484.1:p.Ser363Thr
XM_024447717.1:c.1088G>C XP_024303485.1:p.Ser363Thr
XR_002956828.1:n.1103G>C
XR_002956829.1:n.1103G>C
XR_002956830.1:n.2235G>C
XR_002956831.1:n.1910G>C
XR_002956832.1:n.1234G>C
NM_012203.2:c.815G>C MANE Select NP_036335.1:p.Ser272Thr