Canonical Allele Identifier: CA192890534

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 2625217
• ClinVar RCV Id: RCV003379976
• dbSNP Id: rs1028582929
• gnomAD v4: 9-37429743-G-C
• MyVariant Identifiers: chr9:g.37429740G>C (hg19) ; chr9:g.37429743G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429743G>C , CM000671.2:g.37429743G>C	GRCh38
NC_000009.11:g.37429740G>C , CM000671.1:g.37429740G>C	GRCh37
NC_000009.10:g.37419740G>C	NCBI36
NG_008135.1:g.12034G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.505G>C MANE Select	ENSP00000313432.6:p.Ala169Pro
ENST00000318158.10:c.505G>C	ENSP00000313432.6:p.Ala169Pro
ENST00000377824.8:n.542G>C
ENST00000460882.5:n.532G>C
ENST00000480596.5:n.1206G>C
ENST00000491488.5:n.210G>C
ENST00000494290.1:c.76G>C	ENSP00000432021.1:p.Ala26Pro
ENST00000497693.1:n.2038G>C
ENST00000607784.1:c.505G>C	ENSP00000475569.1:p.Ala169Pro
NM_012203.1:c.505G>C	NP_036335.1:p.Ala169Pro
XM_005251631.1:c.184G>C	XP_005251688.1:p.Ala62Pro
XM_011518073.1:c.103G>C	XP_011516375.1:p.Ala35Pro
XR_929374.1:n.950G>C
XM_017015320.2:c.505G>C	XP_016870809.1:p.Ala169Pro
XM_017015321.2:c.505G>C	XP_016870810.1:p.Ala169Pro
XM_017015323.2:c.103G>C	XP_016870812.1:p.Ala35Pro
XM_024447716.1:c.778G>C	XP_024303484.1:p.Ala260Pro
XM_024447717.1:c.778G>C	XP_024303485.1:p.Ala260Pro
XR_002956828.1:n.793G>C
XR_002956829.1:n.793G>C
XR_002956830.1:n.564G>C
XR_002956831.1:n.239G>C
XR_002956832.1:n.924G>C
NM_012203.2:c.505G>C MANE Select	NP_036335.1:p.Ala169Pro