Canonical Allele Identifier: CA587805601
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1283935539
gnomAD v2: 9-37436946-G-A
gnomAD v3: 9-37436949-G-A
gnomAD v4: 9-37436949-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436949G>A , CM000671.2:g.37436949G>A GRCh38
NC_000009.11:g.37436946G>A , CM000671.1:g.37436946G>A GRCh37
NC_000009.10:g.37426946G>A NCBI36
NG_008135.1:g.19240G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.*167G>A MANE Select ENSP00000313432.6:n.*167G>A
ENST00000318158.10:c.*167G>A ENSP00000313432.6:n.*167G>A
ENST00000480596.5:n.1855G>A
ENST00000494290.1:c.*120G>A ENSP00000432021.1:n.*120G>A
ENST00000497693.1:n.4722G>A
NM_012203.1:c.*167G>A NP_036335.1:n.*167G>A
XM_005251631.1:c.*167G>A XP_005251688.1:n.*167G>A
XM_011518073.1:c.*167G>A XP_011516375.1:n.*167G>A
XM_017015320.2:c.946-462G>A XP_016870809.1:n.946-462G>A
XM_017015321.2:c.866-462G>A XP_016870810.1:n.866-462G>A
XM_017015323.2:c.544-462G>A XP_016870812.1:n.544-462G>A
XM_024447716.1:c.1219-462G>A XP_024303484.1:n.1219-462G>A
XM_024447717.1:c.1139-462G>A XP_024303485.1:n.1139-462G>A
XR_002956828.1:n.1234-462G>A
XR_002956829.1:n.1154-462G>A
XR_002956830.1:n.2574G>A
XR_002956831.1:n.2249G>A
XR_002956832.1:n.1573G>A
NM_012203.2:c.*167G>A MANE Select NP_036335.1:n.*167G>A