Canonical Allele Identifier: CA373444370
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37432022A>G , CM000671.2:g.37432022A>G GRCh38
NC_000009.11:g.37432019A>G , CM000671.1:g.37432019A>G GRCh37
NC_000009.10:g.37422019A>G NCBI36
NG_008135.1:g.14313A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.749A>G MANE Select ENSP00000313432.6:p.Asn250Ser
ENST00000318158.10:c.749A>G ENSP00000313432.6:p.Asn250Ser
ENST00000460882.5:n.776A>G
ENST00000480596.5:n.1450A>G
ENST00000482603.1:n.202A>G
ENST00000491488.5:n.454A>G
ENST00000494290.1:c.*51+871A>G ENSP00000432021.1:n.*51+871A>G
ENST00000497693.1:n.4317A>G
ENST00000607784.1:c.749A>G ENSP00000475569.1:p.Asn250Ser
NM_012203.1:c.749A>G NP_036335.1:p.Asn250Ser
XM_005251631.1:c.428A>G XP_005251688.1:p.Asn143Ser
XM_011518073.1:c.347A>G XP_011516375.1:p.Asn116Ser
XM_017015320.2:c.749A>G XP_016870809.1:p.Asn250Ser
XM_017015321.2:c.749A>G XP_016870810.1:p.Asn250Ser
XM_017015323.2:c.347A>G XP_016870812.1:p.Asn116Ser
XM_024447716.1:c.1022A>G XP_024303484.1:p.Asn341Ser
XM_024447717.1:c.1022A>G XP_024303485.1:p.Asn341Ser
XR_002956828.1:n.1037A>G
XR_002956829.1:n.1037A>G
XR_002956830.1:n.2169A>G
XR_002956831.1:n.1844A>G
XR_002956832.1:n.1168A>G
NM_012203.2:c.749A>G MANE Select NP_036335.1:p.Asn250Ser