Canonical Allele Identifier: CA2689984610
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37436809-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436809A>T , CM000671.2:g.37436809A>T GRCh38
NC_000009.11:g.37436806A>T , CM000671.1:g.37436806A>T GRCh37
NC_000009.10:g.37426806A>T NCBI36
NG_008135.1:g.19100A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.*27A>T MANE Select ENSP00000313432.6:n.*27A>T
ENST00000318158.10:c.*27A>T ENSP00000313432.6:n.*27A>T
ENST00000460882.5:n.1041A>T
ENST00000480596.5:n.1715A>T
ENST00000494290.1:c.*52-72A>T ENSP00000432021.1:n.*52-72A>T
ENST00000497693.1:n.4582A>T
NM_012203.1:c.*27A>T NP_036335.1:n.*27A>T
XM_005251631.1:c.*27A>T XP_005251688.1:n.*27A>T
XM_011518073.1:c.*27A>T XP_011516375.1:n.*27A>T
XM_017015320.2:c.946-602A>T XP_016870809.1:n.946-602A>T
XM_017015321.2:c.866-602A>T XP_016870810.1:n.866-602A>T
XM_017015323.2:c.544-602A>T XP_016870812.1:n.544-602A>T
XM_024447716.1:c.1219-602A>T XP_024303484.1:n.1219-602A>T
XM_024447717.1:c.1139-602A>T XP_024303485.1:n.1139-602A>T
XR_002956828.1:n.1234-602A>T
XR_002956829.1:n.1154-602A>T
XR_002956830.1:n.2434A>T
XR_002956831.1:n.2109A>T
XR_002956832.1:n.1433A>T
NM_012203.2:c.*27A>T MANE Select NP_036335.1:n.*27A>T