Canonical Allele Identifier: CA863718339
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1401875229
gnomAD v3: 9-37428758-G-T
gnomAD v4: 9-37428758-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37428758G>T , CM000671.2:g.37428758G>T GRCh38
NC_000009.11:g.37428755G>T , CM000671.1:g.37428755G>T GRCh37
NC_000009.10:g.37418755G>T NCBI36
NG_008135.1:g.11049G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.493+186G>T MANE Select ENSP00000313432.6:n.493+186G>T
ENST00000318158.10:c.493+186G>T ENSP00000313432.6:n.493+186G>T
ENST00000377824.8:n.530+186G>T
ENST00000460882.5:n.520+186G>T
ENST00000480596.5:n.221G>T
ENST00000491488.5:n.198+186G>T
ENST00000493368.5:n.736G>T
ENST00000497693.1:n.1053G>T
ENST00000607784.1:c.493+186G>T ENSP00000475569.1:n.493+186G>T
NM_012203.1:c.493+186G>T NP_036335.1:n.493+186G>T
XM_005251631.1:c.172+186G>T XP_005251688.1:n.172+186G>T
XM_011518073.1:c.-84G>T XP_011516375.1:n.-84G>T
XR_929374.1:n.764G>T
XM_017015320.2:c.493+186G>T XP_016870809.1:n.493+186G>T
XM_017015321.2:c.493+186G>T XP_016870810.1:n.493+186G>T
XM_017015323.2:c.-84G>T XP_016870812.1:n.-84G>T
XM_024447716.1:c.766+186G>T XP_024303484.1:n.766+186G>T
XM_024447717.1:c.766+186G>T XP_024303485.1:n.766+186G>T
XR_002956828.1:n.781+186G>T
XR_002956829.1:n.781+186G>T
XR_002956830.1:n.552+186G>T
XR_002956831.1:n.227+186G>T
XR_002956832.1:n.738G>T
NM_012203.2:c.493+186G>T MANE Select NP_036335.1:n.493+186G>T