Canonical Allele Identifier: CA373443503

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37429813-C-T
• MyVariant Identifiers: chr9:g.37429810C>T (hg19) ; chr9:g.37429813C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429813C>T , CM000671.2:g.37429813C>T	GRCh38
NC_000009.11:g.37429810C>T , CM000671.1:g.37429810C>T	GRCh37
NC_000009.10:g.37419810C>T	NCBI36
NG_008135.1:g.12104C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.575C>T MANE Select	ENSP00000313432.6:p.Ala192Val
ENST00000318158.10:c.575C>T	ENSP00000313432.6:p.Ala192Val
ENST00000377824.8:n.612C>T
ENST00000460882.5:n.602C>T
ENST00000480596.5:n.1276C>T
ENST00000482603.1:n.28C>T
ENST00000491488.5:n.280C>T
ENST00000494290.1:c.146C>T	ENSP00000432021.1:p.Ala49Val
ENST00000497693.1:n.2108C>T
ENST00000607784.1:c.575C>T	ENSP00000475569.1:p.Ala192Val
NM_012203.1:c.575C>T	NP_036335.1:p.Ala192Val
XM_005251631.1:c.254C>T	XP_005251688.1:p.Ala85Val
XM_011518073.1:c.173C>T	XP_011516375.1:p.Ala58Val
XR_929374.1:n.1020C>T
XM_017015320.2:c.575C>T	XP_016870809.1:p.Ala192Val
XM_017015321.2:c.575C>T	XP_016870810.1:p.Ala192Val
XM_017015323.2:c.173C>T	XP_016870812.1:p.Ala58Val
XM_024447716.1:c.848C>T	XP_024303484.1:p.Ala283Val
XM_024447717.1:c.848C>T	XP_024303485.1:p.Ala283Val
XR_002956828.1:n.863C>T
XR_002956829.1:n.863C>T
XR_002956830.1:n.634C>T
XR_002956831.1:n.309C>T
XR_002956832.1:n.994C>T
NM_012203.2:c.575C>T MANE Select	NP_036335.1:p.Ala192Val