Canonical Allele Identifier: CA273040
Gene: GRHPR HGNC NCBI

Linked Data

ClinVar Variation Id: 162022
dbSNP Id: rs180177322
gnomAD v2: 9-37436696-C-T
gnomAD v3: 9-37436699-C-T
gnomAD v4: 9-37436699-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436699C>T , CM000671.2:g.37436699C>T GRCh38
NC_000009.11:g.37436696C>T , CM000671.1:g.37436696C>T GRCh37
NC_000009.10:g.37426696C>T NCBI36
NG_008135.1:g.18990C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.904C>T MANE Select ENSP00000313432.6:p.Arg302Cys
ENST00000318158.10:c.904C>T ENSP00000313432.6:p.Arg302Cys
ENST00000460882.5:n.931C>T
ENST00000480596.5:n.1605C>T
ENST00000494290.1:c.*52-182C>T ENSP00000432021.1:n.*52-182C>T
ENST00000497693.1:n.4472C>T
NM_012203.1:c.904C>T NP_036335.1:p.Arg302Cys
XM_005251631.1:c.583C>T XP_005251688.1:p.Arg195Cys
XM_011518073.1:c.502C>T XP_011516375.1:p.Arg168Cys
XM_017015320.2:c.946-712C>T XP_016870809.1:n.946-712C>T
XM_017015321.2:c.866-712C>T XP_016870810.1:n.866-712C>T
XM_017015323.2:c.544-712C>T XP_016870812.1:n.544-712C>T
XM_024447716.1:c.1219-712C>T XP_024303484.1:n.1219-712C>T
XM_024447717.1:c.1139-712C>T XP_024303485.1:n.1139-712C>T
XR_002956828.1:n.1234-712C>T
XR_002956829.1:n.1154-712C>T
XR_002956830.1:n.2324C>T
XR_002956831.1:n.1999C>T
XR_002956832.1:n.1323C>T
NM_012203.2:c.904C>T MANE Select NP_036335.1:p.Arg302Cys