Canonical Allele Identifier: CA373443606

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37429833G>C (hg19) ; chr9:g.37429836G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429836G>C , CM000671.2:g.37429836G>C	GRCh38
NC_000009.11:g.37429833G>C , CM000671.1:g.37429833G>C	GRCh37
NC_000009.10:g.37419833G>C	NCBI36
NG_008135.1:g.12127G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.598G>C MANE Select	ENSP00000313432.6:p.Val200Leu
ENST00000318158.10:c.598G>C	ENSP00000313432.6:p.Val200Leu
ENST00000377824.8:n.635G>C
ENST00000460882.5:n.625G>C
ENST00000480596.5:n.1299G>C
ENST00000482603.1:n.51G>C
ENST00000491488.5:n.303G>C
ENST00000494290.1:c.169G>C	ENSP00000432021.1:p.Val57Leu
ENST00000497693.1:n.2131G>C
ENST00000607784.1:c.598G>C	ENSP00000475569.1:p.Val200Leu
NM_012203.1:c.598G>C	NP_036335.1:p.Val200Leu
XM_005251631.1:c.277G>C	XP_005251688.1:p.Val93Leu
XM_011518073.1:c.196G>C	XP_011516375.1:p.Val66Leu
XR_929374.1:n.1043G>C
XM_017015320.2:c.598G>C	XP_016870809.1:p.Val200Leu
XM_017015321.2:c.598G>C	XP_016870810.1:p.Val200Leu
XM_017015323.2:c.196G>C	XP_016870812.1:p.Val66Leu
XM_024447716.1:c.871G>C	XP_024303484.1:p.Val291Leu
XM_024447717.1:c.871G>C	XP_024303485.1:p.Val291Leu
XR_002956828.1:n.886G>C
XR_002956829.1:n.886G>C
XR_002956830.1:n.657G>C
XR_002956831.1:n.332G>C
XR_002956832.1:n.1017G>C
NM_012203.2:c.598G>C MANE Select	NP_036335.1:p.Val200Leu