Canonical Allele Identifier: CA2579340460
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37422702-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37422702C>A , CM000671.2:g.37422702C>A GRCh38
NC_000009.11:g.37422699C>A , CM000671.1:g.37422699C>A GRCh37
NC_000009.10:g.37412699C>A NCBI36
NG_008135.1:g.4993C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.-49C>A MANE Select ENSP00000313432.6:n.-49C>A
ENST00000318158.10:c.-49C>A ENSP00000313432.6:n.-49C>A
ENST00000460882.5:n.7C>A
ENST00000493368.5:n.37C>A
XM_005251631.1:c.-49C>A XP_005251688.1:n.-49C>A
XR_929374.1:n.37C>A
XM_017015320.2:c.-49C>A XP_016870809.1:n.-49C>A
XM_017015321.2:c.-49C>A XP_016870810.1:n.-49C>A
XM_017015323.2:c.-811C>A XP_016870812.1:n.-811C>A
XM_024447716.1:c.253C>A XP_024303484.1:p.Pro85Thr
XM_024447717.1:c.253C>A XP_024303485.1:p.Pro85Thr
XR_002956828.1:n.268C>A
XR_002956829.1:n.268C>A
XR_002956830.1:n.11C>A
XR_002956831.1:n.7C>A
XR_002956832.1:n.11C>A
NM_012203.2:c.-49C>A MANE Select NP_036335.1:n.-49C>A