Canonical Allele Identifier: CA373444488

Gene: GRHPR

Linked Data

• dbSNP Id: rs1180918113
• gnomAD v2: 9-37432072-C-G
• MyVariant Identifiers: chr9:g.37432072C>G (hg19) ; chr9:g.37432075C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37432075C>G , CM000671.2:g.37432075C>G	GRCh38
NC_000009.11:g.37432072C>G , CM000671.1:g.37432072C>G	GRCh37
NC_000009.10:g.37422072C>G	NCBI36
NG_008135.1:g.14366C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.802C>G MANE Select	ENSP00000313432.6:p.Leu268Val
ENST00000318158.10:c.802C>G	ENSP00000313432.6:p.Leu268Val
ENST00000460882.5:n.829C>G
ENST00000480596.5:n.1503C>G
ENST00000482603.1:n.255C>G
ENST00000491488.5:n.507C>G
ENST00000494290.1:c.*51+924C>G	ENSP00000432021.1:n.*51+924C>G
ENST00000497693.1:n.4370C>G
ENST00000607784.1:c.802C>G	ENSP00000475569.1:p.Leu268Val
NM_012203.1:c.802C>G	NP_036335.1:p.Leu268Val
XM_005251631.1:c.481C>G	XP_005251688.1:p.Leu161Val
XM_011518073.1:c.400C>G	XP_011516375.1:p.Leu134Val
XM_017015320.2:c.802C>G	XP_016870809.1:p.Leu268Val
XM_017015321.2:c.802C>G	XP_016870810.1:p.Leu268Val
XM_017015323.2:c.400C>G	XP_016870812.1:p.Leu134Val
XM_024447716.1:c.1075C>G	XP_024303484.1:p.Leu359Val
XM_024447717.1:c.1075C>G	XP_024303485.1:p.Leu359Val
XR_002956828.1:n.1090C>G
XR_002956829.1:n.1090C>G
XR_002956830.1:n.2222C>G
XR_002956831.1:n.1897C>G
XR_002956832.1:n.1221C>G
NM_012203.2:c.802C>G MANE Select	NP_036335.1:p.Leu268Val