Canonical Allele Identifier: CA373445417
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436726A>C , CM000671.2:g.37436726A>C GRCh38
NC_000009.11:g.37436723A>C , CM000671.1:g.37436723A>C GRCh37
NC_000009.10:g.37426723A>C NCBI36
NG_008135.1:g.19017A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.931A>C MANE Select ENSP00000313432.6:p.Asn311His
ENST00000318158.10:c.931A>C ENSP00000313432.6:p.Asn311His
ENST00000460882.5:n.958A>C
ENST00000480596.5:n.1632A>C
ENST00000494290.1:c.*52-155A>C ENSP00000432021.1:n.*52-155A>C
ENST00000497693.1:n.4499A>C
NM_012203.1:c.931A>C NP_036335.1:p.Asn311His
XM_005251631.1:c.610A>C XP_005251688.1:p.Asn204His
XM_011518073.1:c.529A>C XP_011516375.1:p.Asn177His
XM_017015320.2:c.946-685A>C XP_016870809.1:n.946-685A>C
XM_017015321.2:c.866-685A>C XP_016870810.1:n.866-685A>C
XM_017015323.2:c.544-685A>C XP_016870812.1:n.544-685A>C
XM_024447716.1:c.1219-685A>C XP_024303484.1:n.1219-685A>C
XM_024447717.1:c.1139-685A>C XP_024303485.1:n.1139-685A>C
XR_002956828.1:n.1234-685A>C
XR_002956829.1:n.1154-685A>C
XR_002956830.1:n.2351A>C
XR_002956831.1:n.2026A>C
XR_002956832.1:n.1350A>C
NM_012203.2:c.931A>C MANE Select NP_036335.1:p.Asn311His