Canonical Allele Identifier: CA373443557

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37429825-A-T
• MyVariant Identifiers: chr9:g.37429822A>T (hg19) ; chr9:g.37429825A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429825A>T , CM000671.2:g.37429825A>T	GRCh38
NC_000009.11:g.37429822A>T , CM000671.1:g.37429822A>T	GRCh37
NC_000009.10:g.37419822A>T	NCBI36
NG_008135.1:g.12116A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.587A>T MANE Select	ENSP00000313432.6:p.Gln196Leu
ENST00000318158.10:c.587A>T	ENSP00000313432.6:p.Gln196Leu
ENST00000377824.8:n.624A>T
ENST00000460882.5:n.614A>T
ENST00000480596.5:n.1288A>T
ENST00000482603.1:n.40A>T
ENST00000491488.5:n.292A>T
ENST00000494290.1:c.158A>T	ENSP00000432021.1:p.Gln53Leu
ENST00000497693.1:n.2120A>T
ENST00000607784.1:c.587A>T	ENSP00000475569.1:p.Gln196Leu
NM_012203.1:c.587A>T	NP_036335.1:p.Gln196Leu
XM_005251631.1:c.266A>T	XP_005251688.1:p.Gln89Leu
XM_011518073.1:c.185A>T	XP_011516375.1:p.Gln62Leu
XR_929374.1:n.1032A>T
XM_017015320.2:c.587A>T	XP_016870809.1:p.Gln196Leu
XM_017015321.2:c.587A>T	XP_016870810.1:p.Gln196Leu
XM_017015323.2:c.185A>T	XP_016870812.1:p.Gln62Leu
XM_024447716.1:c.860A>T	XP_024303484.1:p.Gln287Leu
XM_024447717.1:c.860A>T	XP_024303485.1:p.Gln287Leu
XR_002956828.1:n.875A>T
XR_002956829.1:n.875A>T
XR_002956830.1:n.646A>T
XR_002956831.1:n.321A>T
XR_002956832.1:n.1006A>T
NM_012203.2:c.587A>T MANE Select	NP_036335.1:p.Gln196Leu