Canonical Allele Identifier: CA5058933

Gene: GRHPR

Linked Data

• dbSNP Id: rs759635458
• ExAC: 9:37424901 G / C
• gnomAD v2: 9-37424901-G-C
• gnomAD v4: 9-37424904-G-C
• MyVariant Identifiers: chr9:g.37424901G>C (hg19) ; chr9:g.37424904G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37424904G>C , CM000671.2:g.37424904G>C	GRCh38
NC_000009.11:g.37424901G>C , CM000671.1:g.37424901G>C	GRCh37
NC_000009.10:g.37414901G>C	NCBI36
NG_008135.1:g.7195G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.143G>C MANE Select	ENSP00000313432.6:p.Gly48Ala
ENST00000318158.10:c.143G>C	ENSP00000313432.6:p.Gly48Ala
ENST00000377824.8:n.180G>C
ENST00000460882.5:n.170G>C
ENST00000487399.5:n.152G>C
ENST00000491488.5:n.109+2071G>C
ENST00000493368.5:n.200G>C
ENST00000607784.1:c.143G>C	ENSP00000475569.1:p.Gly48Ala
NM_012203.1:c.143G>C	NP_036335.1:p.Gly48Ala
XM_005251631.1:c.83+2071G>C	XP_005251688.1:n.83+2071G>C
XM_011518073.1:c.-620G>C	XP_011516375.1:n.-620G>C
XR_929374.1:n.228G>C
XM_017015320.2:c.143G>C	XP_016870809.1:p.Gly48Ala
XM_017015321.2:c.143G>C	XP_016870810.1:p.Gly48Ala
XM_017015323.2:c.-620G>C	XP_016870812.1:n.-620G>C
XM_024447716.1:c.416G>C	XP_024303484.1:p.Gly139Ala
XM_024447717.1:c.416G>C	XP_024303485.1:p.Gly139Ala
XR_002956828.1:n.431G>C
XR_002956829.1:n.431G>C
XR_002956830.1:n.202G>C
XR_002956831.1:n.138+2071G>C
XR_002956832.1:n.202G>C
NM_012203.2:c.143G>C MANE Select	NP_036335.1:p.Gly48Ala