Canonical Allele Identifier: CA587804254
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1178814340
gnomAD v2: 9-37428706-G-A
gnomAD v4: 9-37428709-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37428709G>A , CM000671.2:g.37428709G>A GRCh38
NC_000009.11:g.37428706G>A , CM000671.1:g.37428706G>A GRCh37
NC_000009.10:g.37418706G>A NCBI36
NG_008135.1:g.11000G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.493+137G>A MANE Select ENSP00000313432.6:n.493+137G>A
ENST00000318158.10:c.493+137G>A ENSP00000313432.6:n.493+137G>A
ENST00000377824.8:n.530+137G>A
ENST00000460882.5:n.520+137G>A
ENST00000480596.5:n.172G>A
ENST00000491488.5:n.198+137G>A
ENST00000493368.5:n.687G>A
ENST00000497693.1:n.1004G>A
ENST00000607784.1:c.493+137G>A ENSP00000475569.1:n.493+137G>A
NM_012203.1:c.493+137G>A NP_036335.1:n.493+137G>A
XM_005251631.1:c.172+137G>A XP_005251688.1:n.172+137G>A
XM_011518073.1:c.-133G>A XP_011516375.1:n.-133G>A
XR_929374.1:n.715G>A
XM_017015320.2:c.493+137G>A XP_016870809.1:n.493+137G>A
XM_017015321.2:c.493+137G>A XP_016870810.1:n.493+137G>A
XM_017015323.2:c.-133G>A XP_016870812.1:n.-133G>A
XM_024447716.1:c.766+137G>A XP_024303484.1:n.766+137G>A
XM_024447717.1:c.766+137G>A XP_024303485.1:n.766+137G>A
XR_002956828.1:n.781+137G>A
XR_002956829.1:n.781+137G>A
XR_002956830.1:n.552+137G>A
XR_002956831.1:n.227+137G>A
XR_002956832.1:n.689G>A
NM_012203.2:c.493+137G>A MANE Select NP_036335.1:n.493+137G>A