Canonical Allele Identifier: CA373442772
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37428530C>T , CM000671.2:g.37428530C>T GRCh38
NC_000009.11:g.37428527C>T , CM000671.1:g.37428527C>T GRCh37
NC_000009.10:g.37418527C>T NCBI36
NG_008135.1:g.10821C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.451C>T MANE Select ENSP00000313432.6:p.Leu151Phe
ENST00000318158.10:c.451C>T ENSP00000313432.6:p.Leu151Phe
ENST00000377824.8:n.488C>T
ENST00000460882.5:n.478C>T
ENST00000491488.5:n.156C>T
ENST00000493368.5:n.508C>T
ENST00000497693.1:n.825C>T
ENST00000607784.1:c.451C>T ENSP00000475569.1:p.Leu151Phe
NM_012203.1:c.451C>T NP_036335.1:p.Leu151Phe
XM_005251631.1:c.130C>T XP_005251688.1:p.Leu44Phe
XM_011518073.1:c.-312C>T XP_011516375.1:n.-312C>T
XR_929374.1:n.536C>T
XM_017015320.2:c.451C>T XP_016870809.1:p.Leu151Phe
XM_017015321.2:c.451C>T XP_016870810.1:p.Leu151Phe
XM_017015323.2:c.-312C>T XP_016870812.1:n.-312C>T
XM_024447716.1:c.724C>T XP_024303484.1:p.Leu242Phe
XM_024447717.1:c.724C>T XP_024303485.1:p.Leu242Phe
XR_002956828.1:n.739C>T
XR_002956829.1:n.739C>T
XR_002956830.1:n.510C>T
XR_002956831.1:n.185C>T
XR_002956832.1:n.510C>T
NM_012203.2:c.451C>T MANE Select NP_036335.1:p.Leu151Phe