Canonical Allele Identifier: CA5059046

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 2917029
• ClinVar RCV Id: RCV003737616
• dbSNP Id: rs752806700
• ExAC: 9:37428461 G / A
• gnomAD v2: 9-37428461-G-A
• gnomAD v4: 9-37428464-G-A
• MyVariant Identifiers: chr9:g.37428461G>A (hg19) ; chr9:g.37428464G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428464G>A , CM000671.2:g.37428464G>A	GRCh38
NC_000009.11:g.37428461G>A , CM000671.1:g.37428461G>A	GRCh37
NC_000009.10:g.37418461G>A	NCBI36
NG_008135.1:g.10755G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.405-20G>A MANE Select	ENSP00000313432.6:n.405-20G>A
ENST00000318158.10:c.405-20G>A	ENSP00000313432.6:n.405-20G>A
ENST00000377824.8:n.442-20G>A
ENST00000460882.5:n.432-20G>A
ENST00000491488.5:n.110-20G>A
ENST00000493368.5:n.462-20G>A
ENST00000497693.1:n.759G>A
ENST00000607784.1:c.405-20G>A	ENSP00000475569.1:n.405-20G>A
NM_012203.1:c.405-20G>A	NP_036335.1:n.405-20G>A
XM_005251631.1:c.84-20G>A	XP_005251688.1:n.84-20G>A
XM_011518073.1:c.-358-20G>A	XP_011516375.1:n.-358-20G>A
XR_929374.1:n.490-20G>A
XM_017015320.2:c.405-20G>A	XP_016870809.1:n.405-20G>A
XM_017015321.2:c.405-20G>A	XP_016870810.1:n.405-20G>A
XM_017015323.2:c.-358-20G>A	XP_016870812.1:n.-358-20G>A
XM_024447716.1:c.678-20G>A	XP_024303484.1:n.678-20G>A
XM_024447717.1:c.678-20G>A	XP_024303485.1:n.678-20G>A
XR_002956828.1:n.693-20G>A
XR_002956829.1:n.693-20G>A
XR_002956830.1:n.464-20G>A
XR_002956831.1:n.139-20G>A
XR_002956832.1:n.464-20G>A
NM_012203.2:c.405-20G>A MANE Select	NP_036335.1:n.405-20G>A