Canonical Allele Identifier: CA2689984611
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37436819-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436819T>C , CM000671.2:g.37436819T>C GRCh38
NC_000009.11:g.37436816T>C , CM000671.1:g.37436816T>C GRCh37
NC_000009.10:g.37426816T>C NCBI36
NG_008135.1:g.19110T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.*37T>C MANE Select ENSP00000313432.6:n.*37T>C
ENST00000318158.10:c.*37T>C ENSP00000313432.6:n.*37T>C
ENST00000460882.5:n.1051T>C
ENST00000480596.5:n.1725T>C
ENST00000494290.1:c.*52-62T>C ENSP00000432021.1:n.*52-62T>C
ENST00000497693.1:n.4592T>C
NM_012203.1:c.*37T>C NP_036335.1:n.*37T>C
XM_005251631.1:c.*37T>C XP_005251688.1:n.*37T>C
XM_011518073.1:c.*37T>C XP_011516375.1:n.*37T>C
XM_017015320.2:c.946-592T>C XP_016870809.1:n.946-592T>C
XM_017015321.2:c.866-592T>C XP_016870810.1:n.866-592T>C
XM_017015323.2:c.544-592T>C XP_016870812.1:n.544-592T>C
XM_024447716.1:c.1219-592T>C XP_024303484.1:n.1219-592T>C
XM_024447717.1:c.1139-592T>C XP_024303485.1:n.1139-592T>C
XR_002956828.1:n.1234-592T>C
XR_002956829.1:n.1154-592T>C
XR_002956830.1:n.2444T>C
XR_002956831.1:n.2119T>C
XR_002956832.1:n.1443T>C
NM_012203.2:c.*37T>C MANE Select NP_036335.1:n.*37T>C