Canonical Allele Identifier: CA373443548

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37429824-C-T
• MyVariant Identifiers: chr9:g.37429821C>T (hg19) ; chr9:g.37429824C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429824C>T , CM000671.2:g.37429824C>T	GRCh38
NC_000009.11:g.37429821C>T , CM000671.1:g.37429821C>T	GRCh37
NC_000009.10:g.37419821C>T	NCBI36
NG_008135.1:g.12115C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.586C>T MANE Select	ENSP00000313432.6:p.Gln196Ter
ENST00000318158.10:c.586C>T	ENSP00000313432.6:p.Gln196Ter
ENST00000377824.8:n.623C>T
ENST00000460882.5:n.613C>T
ENST00000480596.5:n.1287C>T
ENST00000482603.1:n.39C>T
ENST00000491488.5:n.291C>T
ENST00000494290.1:c.157C>T	ENSP00000432021.1:p.Gln53Ter
ENST00000497693.1:n.2119C>T
ENST00000607784.1:c.586C>T	ENSP00000475569.1:p.Gln196Ter
NM_012203.1:c.586C>T	NP_036335.1:p.Gln196Ter
XM_005251631.1:c.265C>T	XP_005251688.1:p.Gln89Ter
XM_011518073.1:c.184C>T	XP_011516375.1:p.Gln62Ter
XR_929374.1:n.1031C>T
XM_017015320.2:c.586C>T	XP_016870809.1:p.Gln196Ter
XM_017015321.2:c.586C>T	XP_016870810.1:p.Gln196Ter
XM_017015323.2:c.184C>T	XP_016870812.1:p.Gln62Ter
XM_024447716.1:c.859C>T	XP_024303484.1:p.Gln287Ter
XM_024447717.1:c.859C>T	XP_024303485.1:p.Gln287Ter
XR_002956828.1:n.874C>T
XR_002956829.1:n.874C>T
XR_002956830.1:n.645C>T
XR_002956831.1:n.320C>T
XR_002956832.1:n.1005C>T
NM_012203.2:c.586C>T MANE Select	NP_036335.1:p.Gln196Ter