Canonical Allele Identifier: CA465004104
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37429793-C-A
MyVariant Identifiers: chr9:g.37429790C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429793C>A , CM000671.2:g.37429793C>A GRCh38
NC_000009.11:g.37429790C>A , CM000671.1:g.37429790C>A GRCh37
NC_000009.10:g.37419790C>A NCBI36
NG_008135.1:g.12084C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.555C>A MANE Select ENSP00000313432.6:p.Arg185=
ENST00000318158.10:c.555C>A ENSP00000313432.6:p.Arg185=
ENST00000377824.8:n.592C>A
ENST00000460882.5:n.582C>A
ENST00000480596.5:n.1256C>A
ENST00000482603.1:n.8C>A
ENST00000491488.5:n.260C>A
ENST00000494290.1:c.126C>A ENSP00000432021.1:p.Arg42=
ENST00000497693.1:n.2088C>A
ENST00000607784.1:c.555C>A ENSP00000475569.1:p.Arg185=
NM_012203.1:c.555C>A NP_036335.1:p.Arg185=
XM_005251631.1:c.234C>A XP_005251688.1:p.Arg78=
XM_011518073.1:c.153C>A XP_011516375.1:p.Arg51=
XR_929374.1:n.1000C>A
XM_017015320.2:c.555C>A XP_016870809.1:p.Arg185=
XM_017015321.2:c.555C>A XP_016870810.1:p.Arg185=
XM_017015323.2:c.153C>A XP_016870812.1:p.Arg51=
XM_024447716.1:c.828C>A XP_024303484.1:p.Arg276=
XM_024447717.1:c.828C>A XP_024303485.1:p.Arg276=
XR_002956828.1:n.843C>A
XR_002956829.1:n.843C>A
XR_002956830.1:n.614C>A
XR_002956831.1:n.289C>A
XR_002956832.1:n.974C>A
NM_012203.2:c.555C>A MANE Select NP_036335.1:p.Arg185=