Canonical Allele Identifier: CA373441419

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37424877T>G (hg19) ; chr9:g.37424880T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37424880T>G , CM000671.2:g.37424880T>G	GRCh38
NC_000009.11:g.37424877T>G , CM000671.1:g.37424877T>G	GRCh37
NC_000009.10:g.37414877T>G	NCBI36
NG_008135.1:g.7171T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.119T>G MANE Select	ENSP00000313432.6:p.Ile40Ser
ENST00000318158.10:c.119T>G	ENSP00000313432.6:p.Ile40Ser
ENST00000377824.8:n.156T>G
ENST00000460882.5:n.146T>G
ENST00000487399.5:n.128T>G
ENST00000491488.5:n.109+2047T>G
ENST00000493368.5:n.176T>G
ENST00000607784.1:c.119T>G	ENSP00000475569.1:p.Ile40Ser
NM_012203.1:c.119T>G	NP_036335.1:p.Ile40Ser
XM_005251631.1:c.83+2047T>G	XP_005251688.1:n.83+2047T>G
XM_011518073.1:c.-644T>G	XP_011516375.1:n.-644T>G
XR_929374.1:n.204T>G
XM_017015320.2:c.119T>G	XP_016870809.1:p.Ile40Ser
XM_017015321.2:c.119T>G	XP_016870810.1:p.Ile40Ser
XM_017015323.2:c.-644T>G	XP_016870812.1:n.-644T>G
XM_024447716.1:c.392T>G	XP_024303484.1:p.Ile131Ser
XM_024447717.1:c.392T>G	XP_024303485.1:p.Ile131Ser
XR_002956828.1:n.407T>G
XR_002956829.1:n.407T>G
XR_002956830.1:n.178T>G
XR_002956831.1:n.138+2047T>G
XR_002956832.1:n.178T>G
NM_012203.2:c.119T>G MANE Select	NP_036335.1:p.Ile40Ser