Canonical Allele Identifier: CA373443562

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37429827-G-A
• MyVariant Identifiers: chr9:g.37429824G>A (hg19) ; chr9:g.37429827G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429827G>A , CM000671.2:g.37429827G>A	GRCh38
NC_000009.11:g.37429824G>A , CM000671.1:g.37429824G>A	GRCh37
NC_000009.10:g.37419824G>A	NCBI36
NG_008135.1:g.12118G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.589G>A MANE Select	ENSP00000313432.6:p.Ala197Thr
ENST00000318158.10:c.589G>A	ENSP00000313432.6:p.Ala197Thr
ENST00000377824.8:n.626G>A
ENST00000460882.5:n.616G>A
ENST00000480596.5:n.1290G>A
ENST00000482603.1:n.42G>A
ENST00000491488.5:n.294G>A
ENST00000494290.1:c.160G>A	ENSP00000432021.1:p.Ala54Thr
ENST00000497693.1:n.2122G>A
ENST00000607784.1:c.589G>A	ENSP00000475569.1:p.Ala197Thr
NM_012203.1:c.589G>A	NP_036335.1:p.Ala197Thr
XM_005251631.1:c.268G>A	XP_005251688.1:p.Ala90Thr
XM_011518073.1:c.187G>A	XP_011516375.1:p.Ala63Thr
XR_929374.1:n.1034G>A
XM_017015320.2:c.589G>A	XP_016870809.1:p.Ala197Thr
XM_017015321.2:c.589G>A	XP_016870810.1:p.Ala197Thr
XM_017015323.2:c.187G>A	XP_016870812.1:p.Ala63Thr
XM_024447716.1:c.862G>A	XP_024303484.1:p.Ala288Thr
XM_024447717.1:c.862G>A	XP_024303485.1:p.Ala288Thr
XR_002956828.1:n.877G>A
XR_002956829.1:n.877G>A
XR_002956830.1:n.648G>A
XR_002956831.1:n.323G>A
XR_002956832.1:n.1008G>A
NM_012203.2:c.589G>A MANE Select	NP_036335.1:p.Ala197Thr