Canonical Allele Identifier: CA2689981351

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37429856-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429856C>A , CM000671.2:g.37429856C>A	GRCh38
NC_000009.11:g.37429853C>A , CM000671.1:g.37429853C>A	GRCh37
NC_000009.10:g.37419853C>A	NCBI36
NG_008135.1:g.12147C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.598+20C>A MANE Select	ENSP00000313432.6:n.598+20C>A
ENST00000318158.10:c.598+20C>A	ENSP00000313432.6:n.598+20C>A
ENST00000377824.8:n.635+20C>A
ENST00000460882.5:n.625+20C>A
ENST00000480596.5:n.1299+20C>A
ENST00000482603.1:n.51+20C>A
ENST00000491488.5:n.303+20C>A
ENST00000494290.1:c.169+20C>A	ENSP00000432021.1:n.169+20C>A
ENST00000497693.1:n.2151C>A
ENST00000607784.1:c.598+20C>A	ENSP00000475569.1:n.598+20C>A
NM_012203.1:c.598+20C>A	NP_036335.1:n.598+20C>A
XM_005251631.1:c.277+20C>A	XP_005251688.1:n.277+20C>A
XM_011518073.1:c.196+20C>A	XP_011516375.1:n.196+20C>A
XR_929374.1:n.1043+20C>A
XM_017015320.2:c.598+20C>A	XP_016870809.1:n.598+20C>A
XM_017015321.2:c.598+20C>A	XP_016870810.1:n.598+20C>A
XM_017015323.2:c.196+20C>A	XP_016870812.1:n.196+20C>A
XM_024447716.1:c.871+20C>A	XP_024303484.1:n.871+20C>A
XM_024447717.1:c.871+20C>A	XP_024303485.1:n.871+20C>A
XR_002956828.1:n.886+20C>A
XR_002956829.1:n.886+20C>A
XR_002956830.1:n.657+20C>A
XR_002956831.1:n.332+20C>A
XR_002956832.1:n.1017+20C>A
NM_012203.2:c.598+20C>A MANE Select	NP_036335.1:n.598+20C>A