Canonical Allele Identifier: CA2579340458

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37422697-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37422697C>A , CM000671.2:g.37422697C>A	GRCh38
NC_000009.11:g.37422694C>A , CM000671.1:g.37422694C>A	GRCh37
NC_000009.10:g.37412694C>A	NCBI36
NG_008135.1:g.4988C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.-54C>A MANE Select	ENSP00000313432.6:n.-54C>A
ENST00000318158.10:c.-54C>A	ENSP00000313432.6:n.-54C>A
ENST00000460882.5:n.2C>A
ENST00000493368.5:n.32C>A
XM_005251631.1:c.-54C>A	XP_005251688.1:n.-54C>A
XR_929374.1:n.32C>A
XM_017015320.2:c.-54C>A	XP_016870809.1:n.-54C>A
XM_017015321.2:c.-54C>A	XP_016870810.1:n.-54C>A
XM_017015323.2:c.-816C>A	XP_016870812.1:n.-816C>A
XM_024447716.1:c.248C>A	XP_024303484.1:p.Thr83Lys
XM_024447717.1:c.248C>A	XP_024303485.1:p.Thr83Lys
XR_002956828.1:n.263C>A
XR_002956829.1:n.263C>A
XR_002956830.1:n.6C>A
XR_002956831.1:n.2C>A
XR_002956832.1:n.6C>A
NM_012203.2:c.-54C>A MANE Select	NP_036335.1:n.-54C>A