Canonical Allele Identifier: CA5059255

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 1079588
• ClinVar RCV Id: RCV002384560
• dbSNP Id: rs373541730
• ExAC: 9:37432014 C / T
• gnomAD v2: 9-37432014-C-T
• gnomAD v3: 9-37432017-C-T
• gnomAD v4: 9-37432017-C-T
• MyVariant Identifiers: chr9:g.37432014C>T (hg19) ; chr9:g.37432017C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37432017C>T , CM000671.2:g.37432017C>T	GRCh38
NC_000009.11:g.37432014C>T , CM000671.1:g.37432014C>T	GRCh37
NC_000009.10:g.37422014C>T	NCBI36
NG_008135.1:g.14308C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.744C>T MANE Select	ENSP00000313432.6:p.Val248=
ENST00000318158.10:c.744C>T	ENSP00000313432.6:p.Val248=
ENST00000460882.5:n.771C>T
ENST00000480596.5:n.1445C>T
ENST00000482603.1:n.197C>T
ENST00000491488.5:n.449C>T
ENST00000494290.1:c.*51+866C>T	ENSP00000432021.1:n.*51+866C>T
ENST00000497693.1:n.4312C>T
ENST00000607784.1:c.744C>T	ENSP00000475569.1:p.Val248=
NM_012203.1:c.744C>T	NP_036335.1:p.Val248=
XM_005251631.1:c.423C>T	XP_005251688.1:p.Val141=
XM_011518073.1:c.342C>T	XP_011516375.1:p.Val114=
XM_017015320.2:c.744C>T	XP_016870809.1:p.Val248=
XM_017015321.2:c.744C>T	XP_016870810.1:p.Val248=
XM_017015323.2:c.342C>T	XP_016870812.1:p.Val114=
XM_024447716.1:c.1017C>T	XP_024303484.1:p.Val339=
XM_024447717.1:c.1017C>T	XP_024303485.1:p.Val339=
XR_002956828.1:n.1032C>T
XR_002956829.1:n.1032C>T
XR_002956830.1:n.2164C>T
XR_002956831.1:n.1839C>T
XR_002956832.1:n.1163C>T
NM_012203.2:c.744C>T MANE Select	NP_036335.1:p.Val248=