Canonical Allele Identifier: CA373442429

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37426545G>C (hg19) ; chr9:g.37426548G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37426548G>C , CM000671.2:g.37426548G>C	GRCh38
NC_000009.11:g.37426545G>C , CM000671.1:g.37426545G>C	GRCh37
NC_000009.10:g.37416545G>C	NCBI36
NG_008135.1:g.8839G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.298G>C MANE Select	ENSP00000313432.6:p.Val100Leu
ENST00000318158.10:c.298G>C	ENSP00000313432.6:p.Val100Leu
ENST00000377824.8:n.335G>C
ENST00000460882.5:n.325G>C
ENST00000487399.5:n.850G>C
ENST00000491488.5:n.110-1936G>C
ENST00000493368.5:n.355G>C
ENST00000607784.1:c.298G>C	ENSP00000475569.1:p.Val100Leu
NM_012203.1:c.298G>C	NP_036335.1:p.Val100Leu
XM_005251631.1:c.84-1936G>C	XP_005251688.1:n.84-1936G>C
XM_011518073.1:c.-465G>C	XP_011516375.1:n.-465G>C
XR_929374.1:n.383G>C
XM_017015320.2:c.298G>C	XP_016870809.1:p.Val100Leu
XM_017015321.2:c.298G>C	XP_016870810.1:p.Val100Leu
XM_017015323.2:c.-465G>C	XP_016870812.1:n.-465G>C
XM_024447716.1:c.571G>C	XP_024303484.1:p.Val191Leu
XM_024447717.1:c.571G>C	XP_024303485.1:p.Val191Leu
XR_002956828.1:n.586G>C
XR_002956829.1:n.586G>C
XR_002956830.1:n.357G>C
XR_002956831.1:n.139-1936G>C
XR_002956832.1:n.357G>C
NM_012203.2:c.298G>C MANE Select	NP_036335.1:p.Val100Leu