Canonical Allele Identifier: CA2689953209

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37426465-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37426465T>C , CM000671.2:g.37426465T>C	GRCh38
NC_000009.11:g.37426462T>C , CM000671.1:g.37426462T>C	GRCh37
NC_000009.10:g.37416462T>C	NCBI36
NG_008135.1:g.8756T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.288-73T>C MANE Select	ENSP00000313432.6:n.288-73T>C
ENST00000318158.10:c.288-73T>C	ENSP00000313432.6:n.288-73T>C
ENST00000377824.8:n.325-73T>C
ENST00000460882.5:n.315-73T>C
ENST00000487399.5:n.767T>C
ENST00000491488.5:n.110-2019T>C
ENST00000493368.5:n.345-73T>C
ENST00000607784.1:c.288-73T>C	ENSP00000475569.1:n.288-73T>C
NM_012203.1:c.288-73T>C	NP_036335.1:n.288-73T>C
XM_005251631.1:c.84-2019T>C	XP_005251688.1:n.84-2019T>C
XM_011518073.1:c.-475-73T>C	XP_011516375.1:n.-475-73T>C
XR_929374.1:n.373-73T>C
XM_017015320.2:c.288-73T>C	XP_016870809.1:n.288-73T>C
XM_017015321.2:c.288-73T>C	XP_016870810.1:n.288-73T>C
XM_017015323.2:c.-475-73T>C	XP_016870812.1:n.-475-73T>C
XM_024447716.1:c.561-73T>C	XP_024303484.1:n.561-73T>C
XM_024447717.1:c.561-73T>C	XP_024303485.1:n.561-73T>C
XR_002956828.1:n.576-73T>C
XR_002956829.1:n.576-73T>C
XR_002956830.1:n.347-73T>C
XR_002956831.1:n.139-2019T>C
XR_002956832.1:n.347-73T>C
NM_012203.2:c.288-73T>C MANE Select	NP_036335.1:n.288-73T>C