Canonical Allele Identifier: CA5058949

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 1159513
• ClinVar RCV Id: RCV001503311 ; RCV002414221 ; RCV002501728
• dbSNP Id: rs139689525
• ExAC: 9:37424938 C / T
• gnomAD v2: 9-37424938-C-T
• gnomAD v3: 9-37424941-C-T
• gnomAD v4: 9-37424941-C-T
• COSMIC: COSM237473
• MyVariant Identifiers: chr9:g.37424938C>T (hg19) ; chr9:g.37424941C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37424941C>T , CM000671.2:g.37424941C>T	GRCh38
NC_000009.11:g.37424938C>T , CM000671.1:g.37424938C>T	GRCh37
NC_000009.10:g.37414938C>T	NCBI36
NG_008135.1:g.7232C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.180C>T MANE Select	ENSP00000313432.6:p.Ser60=
ENST00000318158.10:c.180C>T	ENSP00000313432.6:p.Ser60=
ENST00000377824.8:n.217C>T
ENST00000460882.5:n.207C>T
ENST00000487399.5:n.189C>T
ENST00000491488.5:n.109+2108C>T
ENST00000493368.5:n.237C>T
ENST00000607784.1:c.180C>T	ENSP00000475569.1:p.Ser60=
NM_012203.1:c.180C>T	NP_036335.1:p.Ser60=
XM_005251631.1:c.83+2108C>T	XP_005251688.1:n.83+2108C>T
XM_011518073.1:c.-583C>T	XP_011516375.1:n.-583C>T
XR_929374.1:n.265C>T
XM_017015320.2:c.180C>T	XP_016870809.1:p.Ser60=
XM_017015321.2:c.180C>T	XP_016870810.1:p.Ser60=
XM_017015323.2:c.-583C>T	XP_016870812.1:n.-583C>T
XM_024447716.1:c.453C>T	XP_024303484.1:p.Ser151=
XM_024447717.1:c.453C>T	XP_024303485.1:p.Ser151=
XR_002956828.1:n.468C>T
XR_002956829.1:n.468C>T
XR_002956830.1:n.239C>T
XR_002956831.1:n.138+2108C>T
XR_002956832.1:n.239C>T
NM_012203.2:c.180C>T MANE Select	NP_036335.1:p.Ser60=