Canonical Allele Identifier: CA373442815
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37428552T>G , CM000671.2:g.37428552T>G GRCh38
NC_000009.11:g.37428549T>G , CM000671.1:g.37428549T>G GRCh37
NC_000009.10:g.37418549T>G NCBI36
NG_008135.1:g.10843T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.473T>G MANE Select ENSP00000313432.6:p.Ile158Ser
ENST00000318158.10:c.473T>G ENSP00000313432.6:p.Ile158Ser
ENST00000377824.8:n.510T>G
ENST00000460882.5:n.500T>G
ENST00000480596.5:n.15T>G
ENST00000491488.5:n.178T>G
ENST00000493368.5:n.530T>G
ENST00000497693.1:n.847T>G
ENST00000607784.1:c.473T>G ENSP00000475569.1:p.Ile158Ser
NM_012203.1:c.473T>G NP_036335.1:p.Ile158Ser
XM_005251631.1:c.152T>G XP_005251688.1:p.Ile51Ser
XM_011518073.1:c.-290T>G XP_011516375.1:n.-290T>G
XR_929374.1:n.558T>G
XM_017015320.2:c.473T>G XP_016870809.1:p.Ile158Ser
XM_017015321.2:c.473T>G XP_016870810.1:p.Ile158Ser
XM_017015323.2:c.-290T>G XP_016870812.1:n.-290T>G
XM_024447716.1:c.746T>G XP_024303484.1:p.Ile249Ser
XM_024447717.1:c.746T>G XP_024303485.1:p.Ile249Ser
XR_002956828.1:n.761T>G
XR_002956829.1:n.761T>G
XR_002956830.1:n.532T>G
XR_002956831.1:n.207T>G
XR_002956832.1:n.532T>G
NM_012203.2:c.473T>G MANE Select NP_036335.1:p.Ile158Ser