Canonical Allele Identifier: CA2689984662

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37436912-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436912T>C , CM000671.2:g.37436912T>C	GRCh38
NC_000009.11:g.37436909T>C , CM000671.1:g.37436909T>C	GRCh37
NC_000009.10:g.37426909T>C	NCBI36
NG_008135.1:g.19203T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.*130T>C MANE Select	ENSP00000313432.6:n.*130T>C
ENST00000318158.10:c.*130T>C	ENSP00000313432.6:n.*130T>C
ENST00000480596.5:n.1818T>C
ENST00000494290.1:c.*83T>C	ENSP00000432021.1:n.*83T>C
ENST00000497693.1:n.4685T>C
NM_012203.1:c.*130T>C	NP_036335.1:n.*130T>C
XM_005251631.1:c.*130T>C	XP_005251688.1:n.*130T>C
XM_011518073.1:c.*130T>C	XP_011516375.1:n.*130T>C
XM_017015320.2:c.946-499T>C	XP_016870809.1:n.946-499T>C
XM_017015321.2:c.866-499T>C	XP_016870810.1:n.866-499T>C
XM_017015323.2:c.544-499T>C	XP_016870812.1:n.544-499T>C
XM_024447716.1:c.1219-499T>C	XP_024303484.1:n.1219-499T>C
XM_024447717.1:c.1139-499T>C	XP_024303485.1:n.1139-499T>C
XR_002956828.1:n.1234-499T>C
XR_002956829.1:n.1154-499T>C
XR_002956830.1:n.2537T>C
XR_002956831.1:n.2212T>C
XR_002956832.1:n.1536T>C
NM_012203.2:c.*130T>C MANE Select	NP_036335.1:n.*130T>C