Canonical Allele Identifier: CA465003983
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37428532-C-A
MyVariant Identifiers: chr9:g.37428529C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37428532C>A , CM000671.2:g.37428532C>A GRCh38
NC_000009.11:g.37428529C>A , CM000671.1:g.37428529C>A GRCh37
NC_000009.10:g.37418529C>A NCBI36
NG_008135.1:g.10823C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.453C>A MANE Select ENSP00000313432.6:p.Leu151=
ENST00000318158.10:c.453C>A ENSP00000313432.6:p.Leu151=
ENST00000377824.8:n.490C>A
ENST00000460882.5:n.480C>A
ENST00000491488.5:n.158C>A
ENST00000493368.5:n.510C>A
ENST00000497693.1:n.827C>A
ENST00000607784.1:c.453C>A ENSP00000475569.1:p.Leu151=
NM_012203.1:c.453C>A NP_036335.1:p.Leu151=
XM_005251631.1:c.132C>A XP_005251688.1:p.Leu44=
XM_011518073.1:c.-310C>A XP_011516375.1:n.-310C>A
XR_929374.1:n.538C>A
XM_017015320.2:c.453C>A XP_016870809.1:p.Leu151=
XM_017015321.2:c.453C>A XP_016870810.1:p.Leu151=
XM_017015323.2:c.-310C>A XP_016870812.1:n.-310C>A
XM_024447716.1:c.726C>A XP_024303484.1:p.Leu242=
XM_024447717.1:c.726C>A XP_024303485.1:p.Leu242=
XR_002956828.1:n.741C>A
XR_002956829.1:n.741C>A
XR_002956830.1:n.512C>A
XR_002956831.1:n.187C>A
XR_002956832.1:n.512C>A
NM_012203.2:c.453C>A MANE Select NP_036335.1:p.Leu151=