Canonical Allele Identifier: CA5059140

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 915250
• ClinVar RCV Id: RCV001169810 ; RCV001459259
• dbSNP Id: rs370395134
• ExAC: 9:37429778 G / C
• gnomAD v2: 9-37429778-G-C
• gnomAD v3: 9-37429781-G-C
• gnomAD v4: 9-37429781-G-C
• MyVariant Identifiers: chr9:g.37429778G>C (hg19) ; chr9:g.37429781G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429781G>C , CM000671.2:g.37429781G>C	GRCh38
NC_000009.11:g.37429778G>C , CM000671.1:g.37429778G>C	GRCh37
NC_000009.10:g.37419778G>C	NCBI36
NG_008135.1:g.12072G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.543G>C MANE Select	ENSP00000313432.6:p.Leu181=
ENST00000318158.10:c.543G>C	ENSP00000313432.6:p.Leu181=
ENST00000377824.8:n.580G>C
ENST00000460882.5:n.570G>C
ENST00000480596.5:n.1244G>C
ENST00000491488.5:n.248G>C
ENST00000494290.1:c.114G>C	ENSP00000432021.1:p.Leu38=
ENST00000497693.1:n.2076G>C
ENST00000607784.1:c.543G>C	ENSP00000475569.1:p.Leu181=
NM_012203.1:c.543G>C	NP_036335.1:p.Leu181=
XM_005251631.1:c.222G>C	XP_005251688.1:p.Leu74=
XM_011518073.1:c.141G>C	XP_011516375.1:p.Leu47=
XR_929374.1:n.988G>C
XM_017015320.2:c.543G>C	XP_016870809.1:p.Leu181=
XM_017015321.2:c.543G>C	XP_016870810.1:p.Leu181=
XM_017015323.2:c.141G>C	XP_016870812.1:p.Leu47=
XM_024447716.1:c.816G>C	XP_024303484.1:p.Leu272=
XM_024447717.1:c.816G>C	XP_024303485.1:p.Leu272=
XR_002956828.1:n.831G>C
XR_002956829.1:n.831G>C
XR_002956830.1:n.602G>C
XR_002956831.1:n.277G>C
XR_002956832.1:n.962G>C
NM_012203.2:c.543G>C MANE Select	NP_036335.1:p.Leu181=