Canonical Allele Identifier: CA373442809
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37428549-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37428549G>T , CM000671.2:g.37428549G>T GRCh38
NC_000009.11:g.37428546G>T , CM000671.1:g.37428546G>T GRCh37
NC_000009.10:g.37418546G>T NCBI36
NG_008135.1:g.10840G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.470G>T MANE Select ENSP00000313432.6:p.Gly157Val
ENST00000318158.10:c.470G>T ENSP00000313432.6:p.Gly157Val
ENST00000377824.8:n.507G>T
ENST00000460882.5:n.497G>T
ENST00000480596.5:n.12G>T
ENST00000491488.5:n.175G>T
ENST00000493368.5:n.527G>T
ENST00000497693.1:n.844G>T
ENST00000607784.1:c.470G>T ENSP00000475569.1:p.Gly157Val
NM_012203.1:c.470G>T NP_036335.1:p.Gly157Val
XM_005251631.1:c.149G>T XP_005251688.1:p.Gly50Val
XM_011518073.1:c.-293G>T XP_011516375.1:n.-293G>T
XR_929374.1:n.555G>T
XM_017015320.2:c.470G>T XP_016870809.1:p.Gly157Val
XM_017015321.2:c.470G>T XP_016870810.1:p.Gly157Val
XM_017015323.2:c.-293G>T XP_016870812.1:n.-293G>T
XM_024447716.1:c.743G>T XP_024303484.1:p.Gly248Val
XM_024447717.1:c.743G>T XP_024303485.1:p.Gly248Val
XR_002956828.1:n.758G>T
XR_002956829.1:n.758G>T
XR_002956830.1:n.529G>T
XR_002956831.1:n.204G>T
XR_002956832.1:n.529G>T
NM_012203.2:c.470G>T MANE Select NP_036335.1:p.Gly157Val