Canonical Allele Identifier: CA373442770

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37428530-C-A
• MyVariant Identifiers: chr9:g.37428527C>A (hg19) ; chr9:g.37428530C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428530C>A , CM000671.2:g.37428530C>A	GRCh38
NC_000009.11:g.37428527C>A , CM000671.1:g.37428527C>A	GRCh37
NC_000009.10:g.37418527C>A	NCBI36
NG_008135.1:g.10821C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.451C>A MANE Select	ENSP00000313432.6:p.Leu151Ile
ENST00000318158.10:c.451C>A	ENSP00000313432.6:p.Leu151Ile
ENST00000377824.8:n.488C>A
ENST00000460882.5:n.478C>A
ENST00000491488.5:n.156C>A
ENST00000493368.5:n.508C>A
ENST00000497693.1:n.825C>A
ENST00000607784.1:c.451C>A	ENSP00000475569.1:p.Leu151Ile
NM_012203.1:c.451C>A	NP_036335.1:p.Leu151Ile
XM_005251631.1:c.130C>A	XP_005251688.1:p.Leu44Ile
XM_011518073.1:c.-312C>A	XP_011516375.1:n.-312C>A
XR_929374.1:n.536C>A
XM_017015320.2:c.451C>A	XP_016870809.1:p.Leu151Ile
XM_017015321.2:c.451C>A	XP_016870810.1:p.Leu151Ile
XM_017015323.2:c.-312C>A	XP_016870812.1:n.-312C>A
XM_024447716.1:c.724C>A	XP_024303484.1:p.Leu242Ile
XM_024447717.1:c.724C>A	XP_024303485.1:p.Leu242Ile
XR_002956828.1:n.739C>A
XR_002956829.1:n.739C>A
XR_002956830.1:n.510C>A
XR_002956831.1:n.185C>A
XR_002956832.1:n.510C>A
NM_012203.2:c.451C>A MANE Select	NP_036335.1:p.Leu151Ile