Canonical Allele Identifier: CA2689954949

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37428690-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428690G>C , CM000671.2:g.37428690G>C	GRCh38
NC_000009.11:g.37428687G>C , CM000671.1:g.37428687G>C	GRCh37
NC_000009.10:g.37418687G>C	NCBI36
NG_008135.1:g.10981G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.493+118G>C MANE Select	ENSP00000313432.6:n.493+118G>C
ENST00000318158.10:c.493+118G>C	ENSP00000313432.6:n.493+118G>C
ENST00000377824.8:n.530+118G>C
ENST00000460882.5:n.520+118G>C
ENST00000480596.5:n.153G>C
ENST00000491488.5:n.198+118G>C
ENST00000493368.5:n.668G>C
ENST00000497693.1:n.985G>C
ENST00000607784.1:c.493+118G>C	ENSP00000475569.1:n.493+118G>C
NM_012203.1:c.493+118G>C	NP_036335.1:n.493+118G>C
XM_005251631.1:c.172+118G>C	XP_005251688.1:n.172+118G>C
XM_011518073.1:c.-152G>C	XP_011516375.1:n.-152G>C
XR_929374.1:n.696G>C
XM_017015320.2:c.493+118G>C	XP_016870809.1:n.493+118G>C
XM_017015321.2:c.493+118G>C	XP_016870810.1:n.493+118G>C
XM_017015323.2:c.-152G>C	XP_016870812.1:n.-152G>C
XM_024447716.1:c.766+118G>C	XP_024303484.1:n.766+118G>C
XM_024447717.1:c.766+118G>C	XP_024303485.1:n.766+118G>C
XR_002956828.1:n.781+118G>C
XR_002956829.1:n.781+118G>C
XR_002956830.1:n.552+118G>C
XR_002956831.1:n.227+118G>C
XR_002956832.1:n.670G>C
NM_012203.2:c.493+118G>C MANE Select	NP_036335.1:n.493+118G>C