Canonical Allele Identifier: CA2689952218
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37422700-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37422700T>G , CM000671.2:g.37422700T>G GRCh38
NC_000009.11:g.37422697T>G , CM000671.1:g.37422697T>G GRCh37
NC_000009.10:g.37412697T>G NCBI36
NG_008135.1:g.4991T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.-51T>G MANE Select ENSP00000313432.6:n.-51T>G
ENST00000318158.10:c.-51T>G ENSP00000313432.6:n.-51T>G
ENST00000460882.5:n.5T>G
ENST00000493368.5:n.35T>G
XM_005251631.1:c.-51T>G XP_005251688.1:n.-51T>G
XR_929374.1:n.35T>G
XM_017015320.2:c.-51T>G XP_016870809.1:n.-51T>G
XM_017015321.2:c.-51T>G XP_016870810.1:n.-51T>G
XM_017015323.2:c.-813T>G XP_016870812.1:n.-813T>G
XM_024447716.1:c.251T>G XP_024303484.1:p.Phe84Cys
XM_024447717.1:c.251T>G XP_024303485.1:p.Phe84Cys
XR_002956828.1:n.266T>G
XR_002956829.1:n.266T>G
XR_002956830.1:n.9T>G
XR_002956831.1:n.5T>G
XR_002956832.1:n.9T>G
NM_012203.2:c.-51T>G MANE Select NP_036335.1:n.-51T>G