Canonical Allele Identifier: CA465004288

Gene: GRHPR

Linked Data

• dbSNP Id: rs1171298738
• gnomAD v2: 9-37432017-A-C
• gnomAD v4: 9-37432020-A-C
• MyVariant Identifiers: chr9:g.37432017A>C (hg19) ; chr9:g.37432020A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37432020A>C , CM000671.2:g.37432020A>C	GRCh38
NC_000009.11:g.37432017A>C , CM000671.1:g.37432017A>C	GRCh37
NC_000009.10:g.37422017A>C	NCBI36
NG_008135.1:g.14311A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.747A>C MANE Select	ENSP00000313432.6:p.Val249=
ENST00000318158.10:c.747A>C	ENSP00000313432.6:p.Val249=
ENST00000460882.5:n.774A>C
ENST00000480596.5:n.1448A>C
ENST00000482603.1:n.200A>C
ENST00000491488.5:n.452A>C
ENST00000494290.1:c.*51+869A>C	ENSP00000432021.1:n.*51+869A>C
ENST00000497693.1:n.4315A>C
ENST00000607784.1:c.747A>C	ENSP00000475569.1:p.Val249=
NM_012203.1:c.747A>C	NP_036335.1:p.Val249=
XM_005251631.1:c.426A>C	XP_005251688.1:p.Val142=
XM_011518073.1:c.345A>C	XP_011516375.1:p.Val115=
XM_017015320.2:c.747A>C	XP_016870809.1:p.Val249=
XM_017015321.2:c.747A>C	XP_016870810.1:p.Val249=
XM_017015323.2:c.345A>C	XP_016870812.1:p.Val115=
XM_024447716.1:c.1020A>C	XP_024303484.1:p.Val340=
XM_024447717.1:c.1020A>C	XP_024303485.1:p.Val340=
XR_002956828.1:n.1035A>C
XR_002956829.1:n.1035A>C
XR_002956830.1:n.2167A>C
XR_002956831.1:n.1842A>C
XR_002956832.1:n.1166A>C
NM_012203.2:c.747A>C MANE Select	NP_036335.1:p.Val249=