Canonical Allele Identifier: CA373445472

Gene: GRHPR

Linked Data

• dbSNP Id: rs142835989
• gnomAD v2: 9-37436747-G-A
• gnomAD v3: 9-37436750-G-A
• gnomAD v4: 9-37436750-G-A
• MyVariant Identifiers: chr9:g.37436747G>A (hg19) ; chr9:g.37436750G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436750G>A , CM000671.2:g.37436750G>A	GRCh38
NC_000009.11:g.37436747G>A , CM000671.1:g.37436747G>A	GRCh37
NC_000009.10:g.37426747G>A	NCBI36
NG_008135.1:g.19041G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.955G>A MANE Select	ENSP00000313432.6:p.Gly319Arg
ENST00000318158.10:c.955G>A	ENSP00000313432.6:p.Gly319Arg
ENST00000460882.5:n.982G>A
ENST00000480596.5:n.1656G>A
ENST00000494290.1:c.*52-131G>A	ENSP00000432021.1:n.*52-131G>A
ENST00000497693.1:n.4523G>A
NM_012203.1:c.955G>A	NP_036335.1:p.Gly319Arg
XM_005251631.1:c.634G>A	XP_005251688.1:p.Gly212Arg
XM_011518073.1:c.553G>A	XP_011516375.1:p.Gly185Arg
XM_017015320.2:c.946-661G>A	XP_016870809.1:n.946-661G>A
XM_017015321.2:c.866-661G>A	XP_016870810.1:n.866-661G>A
XM_017015323.2:c.544-661G>A	XP_016870812.1:n.544-661G>A
XM_024447716.1:c.1219-661G>A	XP_024303484.1:n.1219-661G>A
XM_024447717.1:c.1139-661G>A	XP_024303485.1:n.1139-661G>A
XR_002956828.1:n.1234-661G>A
XR_002956829.1:n.1154-661G>A
XR_002956830.1:n.2375G>A
XR_002956831.1:n.2050G>A
XR_002956832.1:n.1374G>A
NM_012203.2:c.955G>A MANE Select	NP_036335.1:p.Gly319Arg