Canonical Allele Identifier: CA5058965

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 1167523
• ClinVar RCV Id: RCV001516856 ; RCV001826368
• dbSNP Id: rs143337459
• ExAC: 9:37425938 C / T
• gnomAD v2: 9-37425938-C-T
• gnomAD v3: 9-37425941-C-T
• gnomAD v4: 9-37425941-C-T
• MyVariant Identifiers: chr9:g.37425938C>T (hg19) ; chr9:g.37425941C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37425941C>T , CM000671.2:g.37425941C>T	GRCh38
NC_000009.11:g.37425938C>T , CM000671.1:g.37425938C>T	GRCh37
NC_000009.10:g.37415938C>T	NCBI36
NG_008135.1:g.8232C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.234C>T MANE Select	ENSP00000313432.6:p.Ile78=
ENST00000318158.10:c.234C>T	ENSP00000313432.6:p.Ile78=
ENST00000377824.8:n.271C>T
ENST00000460882.5:n.261C>T
ENST00000487399.5:n.243C>T
ENST00000491488.5:n.110-2543C>T
ENST00000493368.5:n.291C>T
ENST00000607784.1:c.234C>T	ENSP00000475569.1:p.Ile78=
NM_012203.1:c.234C>T	NP_036335.1:p.Ile78=
XM_005251631.1:c.84-2543C>T	XP_005251688.1:n.84-2543C>T
XM_011518073.1:c.-529C>T	XP_011516375.1:n.-529C>T
XR_929374.1:n.319C>T
XM_017015320.2:c.234C>T	XP_016870809.1:p.Ile78=
XM_017015321.2:c.234C>T	XP_016870810.1:p.Ile78=
XM_017015323.2:c.-529C>T	XP_016870812.1:n.-529C>T
XM_024447716.1:c.507C>T	XP_024303484.1:p.Ile169=
XM_024447717.1:c.507C>T	XP_024303485.1:p.Ile169=
XR_002956828.1:n.522C>T
XR_002956829.1:n.522C>T
XR_002956830.1:n.293C>T
XR_002956831.1:n.139-2543C>T
XR_002956832.1:n.293C>T
NM_012203.2:c.234C>T MANE Select	NP_036335.1:p.Ile78=