Canonical Allele Identifier: CA373445328
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436682G>A , CM000671.2:g.37436682G>A GRCh38
NC_000009.11:g.37436679G>A , CM000671.1:g.37436679G>A GRCh37
NC_000009.10:g.37426679G>A NCBI36
NG_008135.1:g.18973G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.887G>A MANE Select ENSP00000313432.6:p.Ser296Asn
ENST00000318158.10:c.887G>A ENSP00000313432.6:p.Ser296Asn
ENST00000460882.5:n.914G>A
ENST00000480596.5:n.1588G>A
ENST00000491488.5:n.592G>A
ENST00000494290.1:c.*52-199G>A ENSP00000432021.1:n.*52-199G>A
ENST00000497693.1:n.4455G>A
NM_012203.1:c.887G>A NP_036335.1:p.Ser296Asn
XM_005251631.1:c.566G>A XP_005251688.1:p.Ser189Asn
XM_011518073.1:c.485G>A XP_011516375.1:p.Ser162Asn
XM_017015320.2:c.946-729G>A XP_016870809.1:n.946-729G>A
XM_017015321.2:c.866-729G>A XP_016870810.1:n.866-729G>A
XM_017015323.2:c.544-729G>A XP_016870812.1:n.544-729G>A
XM_024447716.1:c.1219-729G>A XP_024303484.1:n.1219-729G>A
XM_024447717.1:c.1139-729G>A XP_024303485.1:n.1139-729G>A
XR_002956828.1:n.1234-729G>A
XR_002956829.1:n.1154-729G>A
XR_002956830.1:n.2307G>A
XR_002956831.1:n.1982G>A
XR_002956832.1:n.1306G>A
NM_012203.2:c.887G>A MANE Select NP_036335.1:p.Ser296Asn