Canonical Allele Identifier: CA373444604
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37432133A>T , CM000671.2:g.37432133A>T GRCh38
NC_000009.11:g.37432130A>T , CM000671.1:g.37432130A>T GRCh37
NC_000009.10:g.37422130A>T NCBI36
NG_008135.1:g.14424A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.860A>T MANE Select ENSP00000313432.6:p.Asn287Ile
ENST00000318158.10:c.860A>T ENSP00000313432.6:p.Asn287Ile
ENST00000460882.5:n.887A>T
ENST00000480596.5:n.1561A>T
ENST00000482603.1:n.313A>T
ENST00000491488.5:n.565A>T
ENST00000494290.1:c.*51+982A>T ENSP00000432021.1:n.*51+982A>T
ENST00000497693.1:n.4428A>T
ENST00000512404.2:n.47A>T
ENST00000607784.1:c.860A>T ENSP00000475569.1:p.Asn287Ile
NM_012203.1:c.860A>T NP_036335.1:p.Asn287Ile
XM_005251631.1:c.539A>T XP_005251688.1:p.Asn180Ile
XM_011518073.1:c.458A>T XP_011516375.1:p.Asn153Ile
XM_017015320.2:c.860A>T XP_016870809.1:p.Asn287Ile
XM_017015321.2:c.860A>T XP_016870810.1:p.Asn287Ile
XM_017015323.2:c.458A>T XP_016870812.1:p.Asn153Ile
XM_024447716.1:c.1133A>T XP_024303484.1:p.Asn378Ile
XM_024447717.1:c.1133A>T XP_024303485.1:p.Asn378Ile
XR_002956828.1:n.1148A>T
XR_002956829.1:n.1148A>T
XR_002956830.1:n.2280A>T
XR_002956831.1:n.1955A>T
XR_002956832.1:n.1279A>T
NM_012203.2:c.860A>T MANE Select NP_036335.1:p.Asn287Ile