Canonical Allele Identifier: CA465004108
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37429799-C-A
MyVariant Identifiers: chr9:g.37429796C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429799C>A , CM000671.2:g.37429799C>A GRCh38
NC_000009.11:g.37429796C>A , CM000671.1:g.37429796C>A GRCh37
NC_000009.10:g.37419796C>A NCBI36
NG_008135.1:g.12090C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.561C>A MANE Select ENSP00000313432.6:p.Pro187=
ENST00000318158.10:c.561C>A ENSP00000313432.6:p.Pro187=
ENST00000377824.8:n.598C>A
ENST00000460882.5:n.588C>A
ENST00000480596.5:n.1262C>A
ENST00000482603.1:n.14C>A
ENST00000491488.5:n.266C>A
ENST00000494290.1:c.132C>A ENSP00000432021.1:p.Pro44=
ENST00000497693.1:n.2094C>A
ENST00000607784.1:c.561C>A ENSP00000475569.1:p.Pro187=
NM_012203.1:c.561C>A NP_036335.1:p.Pro187=
XM_005251631.1:c.240C>A XP_005251688.1:p.Pro80=
XM_011518073.1:c.159C>A XP_011516375.1:p.Pro53=
XR_929374.1:n.1006C>A
XM_017015320.2:c.561C>A XP_016870809.1:p.Pro187=
XM_017015321.2:c.561C>A XP_016870810.1:p.Pro187=
XM_017015323.2:c.159C>A XP_016870812.1:p.Pro53=
XM_024447716.1:c.834C>A XP_024303484.1:p.Pro278=
XM_024447717.1:c.834C>A XP_024303485.1:p.Pro278=
XR_002956828.1:n.849C>A
XR_002956829.1:n.849C>A
XR_002956830.1:n.620C>A
XR_002956831.1:n.295C>A
XR_002956832.1:n.980C>A
NM_012203.2:c.561C>A MANE Select NP_036335.1:p.Pro187=