Canonical Allele Identifier: CA373445458

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37436742T>A (hg19) ; chr9:g.37436745T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436745T>A , CM000671.2:g.37436745T>A	GRCh38
NC_000009.11:g.37436742T>A , CM000671.1:g.37436742T>A	GRCh37
NC_000009.10:g.37426742T>A	NCBI36
NG_008135.1:g.19036T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.950T>A MANE Select	ENSP00000313432.6:p.Leu317Gln
ENST00000318158.10:c.950T>A	ENSP00000313432.6:p.Leu317Gln
ENST00000460882.5:n.977T>A
ENST00000480596.5:n.1651T>A
ENST00000494290.1:c.*52-136T>A	ENSP00000432021.1:n.*52-136T>A
ENST00000497693.1:n.4518T>A
NM_012203.1:c.950T>A	NP_036335.1:p.Leu317Gln
XM_005251631.1:c.629T>A	XP_005251688.1:p.Leu210Gln
XM_011518073.1:c.548T>A	XP_011516375.1:p.Leu183Gln
XM_017015320.2:c.946-666T>A	XP_016870809.1:n.946-666T>A
XM_017015321.2:c.866-666T>A	XP_016870810.1:n.866-666T>A
XM_017015323.2:c.544-666T>A	XP_016870812.1:n.544-666T>A
XM_024447716.1:c.1219-666T>A	XP_024303484.1:n.1219-666T>A
XM_024447717.1:c.1139-666T>A	XP_024303485.1:n.1139-666T>A
XR_002956828.1:n.1234-666T>A
XR_002956829.1:n.1154-666T>A
XR_002956830.1:n.2370T>A
XR_002956831.1:n.2045T>A
XR_002956832.1:n.1369T>A
NM_012203.2:c.950T>A MANE Select	NP_036335.1:p.Leu317Gln