Canonical Allele Identifier: CA373445459

Gene: GRHPR

Linked Data

• dbSNP Id: rs1823679695
• MyVariant Identifiers: chr9:g.37436742T>C (hg19) ; chr9:g.37436745T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.950T>C MANE Select	ENSP00000313432.6:p.Leu317Pro
ENST00000318158.10:c.950T>C	ENSP00000313432.6:p.Leu317Pro
ENST00000460882.5:n.977T>C
ENST00000480596.5:n.1651T>C
ENST00000494290.1:c.*52-136T>C	ENSP00000432021.1:n.*52-136T>C
ENST00000497693.1:n.4518T>C
NM_012203.1:c.950T>C	NP_036335.1:p.Leu317Pro
XM_005251631.1:c.629T>C	XP_005251688.1:p.Leu210Pro
XM_011518073.1:c.548T>C	XP_011516375.1:p.Leu183Pro
XM_017015320.2:c.946-666T>C	XP_016870809.1:n.946-666T>C
XM_017015321.2:c.866-666T>C	XP_016870810.1:n.866-666T>C
XM_017015323.2:c.544-666T>C	XP_016870812.1:n.544-666T>C
XM_024447716.1:c.1219-666T>C	XP_024303484.1:n.1219-666T>C
XM_024447717.1:c.1139-666T>C	XP_024303485.1:n.1139-666T>C
XR_002956828.1:n.1234-666T>C
XR_002956829.1:n.1154-666T>C
XR_002956830.1:n.2370T>C
XR_002956831.1:n.2045T>C
XR_002956832.1:n.1369T>C
NM_012203.2:c.950T>C MANE Select	NP_036335.1:p.Leu317Pro