Canonical Allele Identifier: CA373445373
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436704C>A , CM000671.2:g.37436704C>A GRCh38
NC_000009.11:g.37436701C>A , CM000671.1:g.37436701C>A GRCh37
NC_000009.10:g.37426701C>A NCBI36
NG_008135.1:g.18995C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.909C>A MANE Select ENSP00000313432.6:p.Asn303Lys
ENST00000318158.10:c.909C>A ENSP00000313432.6:p.Asn303Lys
ENST00000460882.5:n.936C>A
ENST00000480596.5:n.1610C>A
ENST00000494290.1:c.*52-177C>A ENSP00000432021.1:n.*52-177C>A
ENST00000497693.1:n.4477C>A
NM_012203.1:c.909C>A NP_036335.1:p.Asn303Lys
XM_005251631.1:c.588C>A XP_005251688.1:p.Asn196Lys
XM_011518073.1:c.507C>A XP_011516375.1:p.Asn169Lys
XM_017015320.2:c.946-707C>A XP_016870809.1:n.946-707C>A
XM_017015321.2:c.866-707C>A XP_016870810.1:n.866-707C>A
XM_017015323.2:c.544-707C>A XP_016870812.1:n.544-707C>A
XM_024447716.1:c.1219-707C>A XP_024303484.1:n.1219-707C>A
XM_024447717.1:c.1139-707C>A XP_024303485.1:n.1139-707C>A
XR_002956828.1:n.1234-707C>A
XR_002956829.1:n.1154-707C>A
XR_002956830.1:n.2329C>A
XR_002956831.1:n.2004C>A
XR_002956832.1:n.1328C>A
NM_012203.2:c.909C>A MANE Select NP_036335.1:p.Asn303Lys