Canonical Allele Identifier: CA373442848
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37428570T>G , CM000671.2:g.37428570T>G GRCh38
NC_000009.11:g.37428567T>G , CM000671.1:g.37428567T>G GRCh37
NC_000009.10:g.37418567T>G NCBI36
NG_008135.1:g.10861T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.491T>G MANE Select ENSP00000313432.6:p.Ile164Arg
ENST00000318158.10:c.491T>G ENSP00000313432.6:p.Ile164Arg
ENST00000377824.8:n.528T>G
ENST00000460882.5:n.518T>G
ENST00000480596.5:n.33T>G
ENST00000491488.5:n.196T>G
ENST00000493368.5:n.548T>G
ENST00000497693.1:n.865T>G
ENST00000607784.1:c.491T>G ENSP00000475569.1:p.Ile164Arg
NM_012203.1:c.491T>G NP_036335.1:p.Ile164Arg
XM_005251631.1:c.170T>G XP_005251688.1:p.Ile57Arg
XM_011518073.1:c.-272T>G XP_011516375.1:n.-272T>G
XR_929374.1:n.576T>G
XM_017015320.2:c.491T>G XP_016870809.1:p.Ile164Arg
XM_017015321.2:c.491T>G XP_016870810.1:p.Ile164Arg
XM_017015323.2:c.-272T>G XP_016870812.1:n.-272T>G
XM_024447716.1:c.764T>G XP_024303484.1:p.Ile255Arg
XM_024447717.1:c.764T>G XP_024303485.1:p.Ile255Arg
XR_002956828.1:n.779T>G
XR_002956829.1:n.779T>G
XR_002956830.1:n.550T>G
XR_002956831.1:n.225T>G
XR_002956832.1:n.550T>G
NM_012203.2:c.491T>G MANE Select NP_036335.1:p.Ile164Arg