Canonical Allele Identifier: CA373441495

Gene: GRHPR

Linked Data

• dbSNP Id: rs1261474347
• gnomAD v2: 9-37424903-G-A
• gnomAD v4: 9-37424906-G-A
• COSMIC: COSM4163848 ; COSM4163849
• MyVariant Identifiers: chr9:g.37424903G>A (hg19) ; chr9:g.37424906G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37424906G>A , CM000671.2:g.37424906G>A	GRCh38
NC_000009.11:g.37424903G>A , CM000671.1:g.37424903G>A	GRCh37
NC_000009.10:g.37414903G>A	NCBI36
NG_008135.1:g.7197G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.145G>A MANE Select	ENSP00000313432.6:p.Val49Met
ENST00000318158.10:c.145G>A	ENSP00000313432.6:p.Val49Met
ENST00000377824.8:n.182G>A
ENST00000460882.5:n.172G>A
ENST00000487399.5:n.154G>A
ENST00000491488.5:n.109+2073G>A
ENST00000493368.5:n.202G>A
ENST00000607784.1:c.145G>A	ENSP00000475569.1:p.Val49Met
NM_012203.1:c.145G>A	NP_036335.1:p.Val49Met
XM_005251631.1:c.83+2073G>A	XP_005251688.1:n.83+2073G>A
XM_011518073.1:c.-618G>A	XP_011516375.1:n.-618G>A
XR_929374.1:n.230G>A
XM_017015320.2:c.145G>A	XP_016870809.1:p.Val49Met
XM_017015321.2:c.145G>A	XP_016870810.1:p.Val49Met
XM_017015323.2:c.-618G>A	XP_016870812.1:n.-618G>A
XM_024447716.1:c.418G>A	XP_024303484.1:p.Val140Met
XM_024447717.1:c.418G>A	XP_024303485.1:p.Val140Met
XR_002956828.1:n.433G>A
XR_002956829.1:n.433G>A
XR_002956830.1:n.204G>A
XR_002956831.1:n.138+2073G>A
XR_002956832.1:n.204G>A
NM_012203.2:c.145G>A MANE Select	NP_036335.1:p.Val49Met