Canonical Allele Identifier: CA5058941

Gene: GRHPR

Linked Data

• dbSNP Id: rs779393751
• ExAC: 9:37424913 C / T
• gnomAD v2: 9-37424913-C-T
• gnomAD v3: 9-37424916-C-T
• gnomAD v4: 9-37424916-C-T
• MyVariant Identifiers: chr9:g.37424913C>T (hg19) ; chr9:g.37424916C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37424916C>T , CM000671.2:g.37424916C>T	GRCh38
NC_000009.11:g.37424913C>T , CM000671.1:g.37424913C>T	GRCh37
NC_000009.10:g.37414913C>T	NCBI36
NG_008135.1:g.7207C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.155C>T MANE Select	ENSP00000313432.6:p.Ala52Val
ENST00000318158.10:c.155C>T	ENSP00000313432.6:p.Ala52Val
ENST00000377824.8:n.192C>T
ENST00000460882.5:n.182C>T
ENST00000487399.5:n.164C>T
ENST00000491488.5:n.109+2083C>T
ENST00000493368.5:n.212C>T
ENST00000607784.1:c.155C>T	ENSP00000475569.1:p.Ala52Val
NM_012203.1:c.155C>T	NP_036335.1:p.Ala52Val
XM_005251631.1:c.83+2083C>T	XP_005251688.1:n.83+2083C>T
XM_011518073.1:c.-608C>T	XP_011516375.1:n.-608C>T
XR_929374.1:n.240C>T
XM_017015320.2:c.155C>T	XP_016870809.1:p.Ala52Val
XM_017015321.2:c.155C>T	XP_016870810.1:p.Ala52Val
XM_017015323.2:c.-608C>T	XP_016870812.1:n.-608C>T
XM_024447716.1:c.428C>T	XP_024303484.1:p.Ala143Val
XM_024447717.1:c.428C>T	XP_024303485.1:p.Ala143Val
XR_002956828.1:n.443C>T
XR_002956829.1:n.443C>T
XR_002956830.1:n.214C>T
XR_002956831.1:n.138+2083C>T
XR_002956832.1:n.214C>T
NM_012203.2:c.155C>T MANE Select	NP_036335.1:p.Ala52Val