Canonical Allele Identifier: CA373444579

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37432117C>A (hg19) ; chr9:g.37432120C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37432120C>A , CM000671.2:g.37432120C>A	GRCh38
NC_000009.11:g.37432117C>A , CM000671.1:g.37432117C>A	GRCh37
NC_000009.10:g.37422117C>A	NCBI36
NG_008135.1:g.14411C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.847C>A MANE Select	ENSP00000313432.6:p.Leu283Met
ENST00000318158.10:c.847C>A	ENSP00000313432.6:p.Leu283Met
ENST00000460882.5:n.874C>A
ENST00000480596.5:n.1548C>A
ENST00000482603.1:n.300C>A
ENST00000491488.5:n.552C>A
ENST00000494290.1:c.*51+969C>A	ENSP00000432021.1:n.*51+969C>A
ENST00000497693.1:n.4415C>A
ENST00000512404.2:n.34C>A
ENST00000607784.1:c.847C>A	ENSP00000475569.1:p.Leu283Met
NM_012203.1:c.847C>A	NP_036335.1:p.Leu283Met
XM_005251631.1:c.526C>A	XP_005251688.1:p.Leu176Met
XM_011518073.1:c.445C>A	XP_011516375.1:p.Leu149Met
XM_017015320.2:c.847C>A	XP_016870809.1:p.Leu283Met
XM_017015321.2:c.847C>A	XP_016870810.1:p.Leu283Met
XM_017015323.2:c.445C>A	XP_016870812.1:p.Leu149Met
XM_024447716.1:c.1120C>A	XP_024303484.1:p.Leu374Met
XM_024447717.1:c.1120C>A	XP_024303485.1:p.Leu374Met
XR_002956828.1:n.1135C>A
XR_002956829.1:n.1135C>A
XR_002956830.1:n.2267C>A
XR_002956831.1:n.1942C>A
XR_002956832.1:n.1266C>A
NM_012203.2:c.847C>A MANE Select	NP_036335.1:p.Leu283Met