Canonical Allele Identifier: CA373443516

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37429818-G-T
• MyVariant Identifiers: chr9:g.37429815G>T (hg19) ; chr9:g.37429818G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429818G>T , CM000671.2:g.37429818G>T	GRCh38
NC_000009.11:g.37429815G>T , CM000671.1:g.37429815G>T	GRCh37
NC_000009.10:g.37419815G>T	NCBI36
NG_008135.1:g.12109G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.580G>T MANE Select	ENSP00000313432.6:p.Glu194Ter
ENST00000318158.10:c.580G>T	ENSP00000313432.6:p.Glu194Ter
ENST00000377824.8:n.617G>T
ENST00000460882.5:n.607G>T
ENST00000480596.5:n.1281G>T
ENST00000482603.1:n.33G>T
ENST00000491488.5:n.285G>T
ENST00000494290.1:c.151G>T	ENSP00000432021.1:p.Glu51Ter
ENST00000497693.1:n.2113G>T
ENST00000607784.1:c.580G>T	ENSP00000475569.1:p.Glu194Ter
NM_012203.1:c.580G>T	NP_036335.1:p.Glu194Ter
XM_005251631.1:c.259G>T	XP_005251688.1:p.Glu87Ter
XM_011518073.1:c.178G>T	XP_011516375.1:p.Glu60Ter
XR_929374.1:n.1025G>T
XM_017015320.2:c.580G>T	XP_016870809.1:p.Glu194Ter
XM_017015321.2:c.580G>T	XP_016870810.1:p.Glu194Ter
XM_017015323.2:c.178G>T	XP_016870812.1:p.Glu60Ter
XM_024447716.1:c.853G>T	XP_024303484.1:p.Glu285Ter
XM_024447717.1:c.853G>T	XP_024303485.1:p.Glu285Ter
XR_002956828.1:n.868G>T
XR_002956829.1:n.868G>T
XR_002956830.1:n.639G>T
XR_002956831.1:n.314G>T
XR_002956832.1:n.999G>T
NM_012203.2:c.580G>T MANE Select	NP_036335.1:p.Glu194Ter