Canonical Allele Identifier: CA587804309
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1408272678
gnomAD v2: 9-37428726-A-G
gnomAD v4: 9-37428729-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37428729A>G , CM000671.2:g.37428729A>G GRCh38
NC_000009.11:g.37428726A>G , CM000671.1:g.37428726A>G GRCh37
NC_000009.10:g.37418726A>G NCBI36
NG_008135.1:g.11020A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.493+157A>G MANE Select ENSP00000313432.6:n.493+157A>G
ENST00000318158.10:c.493+157A>G ENSP00000313432.6:n.493+157A>G
ENST00000377824.8:n.530+157A>G
ENST00000460882.5:n.520+157A>G
ENST00000480596.5:n.192A>G
ENST00000491488.5:n.198+157A>G
ENST00000493368.5:n.707A>G
ENST00000497693.1:n.1024A>G
ENST00000607784.1:c.493+157A>G ENSP00000475569.1:n.493+157A>G
NM_012203.1:c.493+157A>G NP_036335.1:n.493+157A>G
XM_005251631.1:c.172+157A>G XP_005251688.1:n.172+157A>G
XM_011518073.1:c.-113A>G XP_011516375.1:n.-113A>G
XR_929374.1:n.735A>G
XM_017015320.2:c.493+157A>G XP_016870809.1:n.493+157A>G
XM_017015321.2:c.493+157A>G XP_016870810.1:n.493+157A>G
XM_017015323.2:c.-113A>G XP_016870812.1:n.-113A>G
XM_024447716.1:c.766+157A>G XP_024303484.1:n.766+157A>G
XM_024447717.1:c.766+157A>G XP_024303485.1:n.766+157A>G
XR_002956828.1:n.781+157A>G
XR_002956829.1:n.781+157A>G
XR_002956830.1:n.552+157A>G
XR_002956831.1:n.227+157A>G
XR_002956832.1:n.709A>G
NM_012203.2:c.493+157A>G MANE Select NP_036335.1:n.493+157A>G