Canonical Allele Identifier: CA373445418
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436727A>C , CM000671.2:g.37436727A>C GRCh38
NC_000009.11:g.37436724A>C , CM000671.1:g.37436724A>C GRCh37
NC_000009.10:g.37426724A>C NCBI36
NG_008135.1:g.19018A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.932A>C MANE Select ENSP00000313432.6:p.Asn311Thr
ENST00000318158.10:c.932A>C ENSP00000313432.6:p.Asn311Thr
ENST00000460882.5:n.959A>C
ENST00000480596.5:n.1633A>C
ENST00000494290.1:c.*52-154A>C ENSP00000432021.1:n.*52-154A>C
ENST00000497693.1:n.4500A>C
NM_012203.1:c.932A>C NP_036335.1:p.Asn311Thr
XM_005251631.1:c.611A>C XP_005251688.1:p.Asn204Thr
XM_011518073.1:c.530A>C XP_011516375.1:p.Asn177Thr
XM_017015320.2:c.946-684A>C XP_016870809.1:n.946-684A>C
XM_017015321.2:c.866-684A>C XP_016870810.1:n.866-684A>C
XM_017015323.2:c.544-684A>C XP_016870812.1:n.544-684A>C
XM_024447716.1:c.1219-684A>C XP_024303484.1:n.1219-684A>C
XM_024447717.1:c.1139-684A>C XP_024303485.1:n.1139-684A>C
XR_002956828.1:n.1234-684A>C
XR_002956829.1:n.1154-684A>C
XR_002956830.1:n.2352A>C
XR_002956831.1:n.2027A>C
XR_002956832.1:n.1351A>C
NM_012203.2:c.932A>C MANE Select NP_036335.1:p.Asn311Thr