Canonical Allele Identifier: CA2689984620
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37436842-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436842C>A , CM000671.2:g.37436842C>A GRCh38
NC_000009.11:g.37436839C>A , CM000671.1:g.37436839C>A GRCh37
NC_000009.10:g.37426839C>A NCBI36
NG_008135.1:g.19133C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.*60C>A MANE Select ENSP00000313432.6:n.*60C>A
ENST00000318158.10:c.*60C>A ENSP00000313432.6:n.*60C>A
ENST00000460882.5:n.1074C>A
ENST00000480596.5:n.1748C>A
ENST00000494290.1:c.*52-39C>A ENSP00000432021.1:n.*52-39C>A
ENST00000497693.1:n.4615C>A
NM_012203.1:c.*60C>A NP_036335.1:n.*60C>A
XM_005251631.1:c.*60C>A XP_005251688.1:n.*60C>A
XM_011518073.1:c.*60C>A XP_011516375.1:n.*60C>A
XM_017015320.2:c.946-569C>A XP_016870809.1:n.946-569C>A
XM_017015321.2:c.866-569C>A XP_016870810.1:n.866-569C>A
XM_017015323.2:c.544-569C>A XP_016870812.1:n.544-569C>A
XM_024447716.1:c.1219-569C>A XP_024303484.1:n.1219-569C>A
XM_024447717.1:c.1139-569C>A XP_024303485.1:n.1139-569C>A
XR_002956828.1:n.1234-569C>A
XR_002956829.1:n.1154-569C>A
XR_002956830.1:n.2467C>A
XR_002956831.1:n.2142C>A
XR_002956832.1:n.1466C>A
NM_012203.2:c.*60C>A MANE Select NP_036335.1:n.*60C>A