Canonical Allele Identifier: CA373444502

Gene: GRHPR

Linked Data

• dbSNP Id: rs1448192738
• MyVariant Identifiers: chr9:g.37432079T>C (hg19) ; chr9:g.37432082T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37432082T>C , CM000671.2:g.37432082T>C	GRCh38
NC_000009.11:g.37432079T>C , CM000671.1:g.37432079T>C	GRCh37
NC_000009.10:g.37422079T>C	NCBI36
NG_008135.1:g.14373T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.809T>C MANE Select	ENSP00000313432.6:p.Val270Ala
ENST00000318158.10:c.809T>C	ENSP00000313432.6:p.Val270Ala
ENST00000460882.5:n.836T>C
ENST00000480596.5:n.1510T>C
ENST00000482603.1:n.262T>C
ENST00000491488.5:n.514T>C
ENST00000494290.1:c.*51+931T>C	ENSP00000432021.1:n.*51+931T>C
ENST00000497693.1:n.4377T>C
ENST00000607784.1:c.809T>C	ENSP00000475569.1:p.Val270Ala
NM_012203.1:c.809T>C	NP_036335.1:p.Val270Ala
XM_005251631.1:c.488T>C	XP_005251688.1:p.Val163Ala
XM_011518073.1:c.407T>C	XP_011516375.1:p.Val136Ala
XM_017015320.2:c.809T>C	XP_016870809.1:p.Val270Ala
XM_017015321.2:c.809T>C	XP_016870810.1:p.Val270Ala
XM_017015323.2:c.407T>C	XP_016870812.1:p.Val136Ala
XM_024447716.1:c.1082T>C	XP_024303484.1:p.Val361Ala
XM_024447717.1:c.1082T>C	XP_024303485.1:p.Val361Ala
XR_002956828.1:n.1097T>C
XR_002956829.1:n.1097T>C
XR_002956830.1:n.2229T>C
XR_002956831.1:n.1904T>C
XR_002956832.1:n.1228T>C
NM_012203.2:c.809T>C MANE Select	NP_036335.1:p.Val270Ala