Canonical Allele Identifier: CA373444616

Gene: GRHPR

Linked Data

• dbSNP Id: rs1469797743
• gnomAD v2: 9-37432135-G-T
• gnomAD v4: 9-37432138-G-T
• MyVariant Identifiers: chr9:g.37432135G>T (hg19) ; chr9:g.37432138G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37432138G>T , CM000671.2:g.37432138G>T	GRCh38
NC_000009.11:g.37432135G>T , CM000671.1:g.37432135G>T	GRCh37
NC_000009.10:g.37422135G>T	NCBI36
NG_008135.1:g.14429G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.865G>T MANE Select	ENSP00000313432.6:p.Val289Leu
ENST00000318158.10:c.865G>T	ENSP00000313432.6:p.Val289Leu
ENST00000460882.5:n.892G>T
ENST00000480596.5:n.1566G>T
ENST00000482603.1:n.318G>T
ENST00000491488.5:n.570G>T
ENST00000494290.1:c.*51+987G>T	ENSP00000432021.1:n.*51+987G>T
ENST00000497693.1:n.4433G>T
ENST00000512404.2:n.52G>T
ENST00000607784.1:c.865G>T	ENSP00000475569.1:p.Gly289Cys
NM_012203.1:c.865G>T	NP_036335.1:p.Val289Leu
XM_005251631.1:c.544G>T	XP_005251688.1:p.Val182Leu
XM_011518073.1:c.463G>T	XP_011516375.1:p.Val155Leu
XM_017015320.2:c.865G>T	XP_016870809.1:p.Asp289Tyr
XM_017015321.2:c.865G>T	XP_016870810.1:p.Asp289Tyr
XM_017015323.2:c.463G>T	XP_016870812.1:p.Asp155Tyr
XM_024447716.1:c.1138G>T	XP_024303484.1:p.Asp380Tyr
XM_024447717.1:c.1138G>T	XP_024303485.1:p.Asp380Tyr
XR_002956828.1:n.1153G>T
XR_002956829.1:n.1153G>T
XR_002956830.1:n.2285G>T
XR_002956831.1:n.1960G>T
XR_002956832.1:n.1284G>T
NM_012203.2:c.865G>T MANE Select	NP_036335.1:p.Val289Leu