Canonical Allele Identifier: CA373442621

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37426635A>C (hg19) ; chr9:g.37426638A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37426638A>C , CM000671.2:g.37426638A>C	GRCh38
NC_000009.11:g.37426635A>C , CM000671.1:g.37426635A>C	GRCh37
NC_000009.10:g.37416635A>C	NCBI36
NG_008135.1:g.8929A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.388A>C MANE Select	ENSP00000313432.6:p.Ile130Leu
ENST00000318158.10:c.388A>C	ENSP00000313432.6:p.Ile130Leu
ENST00000377824.8:n.425A>C
ENST00000460882.5:n.415A>C
ENST00000487399.5:n.940A>C
ENST00000491488.5:n.110-1846A>C
ENST00000493368.5:n.445A>C
ENST00000607784.1:c.388A>C	ENSP00000475569.1:p.Ile130Leu
NM_012203.1:c.388A>C	NP_036335.1:p.Ile130Leu
XM_005251631.1:c.84-1846A>C	XP_005251688.1:n.84-1846A>C
XM_011518073.1:c.-375A>C	XP_011516375.1:n.-375A>C
XR_929374.1:n.473A>C
XM_017015320.2:c.388A>C	XP_016870809.1:p.Ile130Leu
XM_017015321.2:c.388A>C	XP_016870810.1:p.Ile130Leu
XM_017015323.2:c.-375A>C	XP_016870812.1:n.-375A>C
XM_024447716.1:c.661A>C	XP_024303484.1:p.Ile221Leu
XM_024447717.1:c.661A>C	XP_024303485.1:p.Ile221Leu
XR_002956828.1:n.676A>C
XR_002956829.1:n.676A>C
XR_002956830.1:n.447A>C
XR_002956831.1:n.139-1846A>C
XR_002956832.1:n.447A>C
NM_012203.2:c.388A>C MANE Select	NP_036335.1:p.Ile130Leu