Canonical Allele Identifier: CA5059141

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 1152293
• ClinVar RCV Id: RCV001493588
• dbSNP Id: rs754799506
• ExAC: 9:37429781 C / T
• gnomAD v2: 9-37429781-C-T
• gnomAD v4: 9-37429784-C-T
• MyVariant Identifiers: chr9:g.37429781C>T (hg19) ; chr9:g.37429784C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429784C>T , CM000671.2:g.37429784C>T	GRCh38
NC_000009.11:g.37429781C>T , CM000671.1:g.37429781C>T	GRCh37
NC_000009.10:g.37419781C>T	NCBI36
NG_008135.1:g.12075C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.546C>T MANE Select	ENSP00000313432.6:p.Tyr182=
ENST00000318158.10:c.546C>T	ENSP00000313432.6:p.Tyr182=
ENST00000377824.8:n.583C>T
ENST00000460882.5:n.573C>T
ENST00000480596.5:n.1247C>T
ENST00000491488.5:n.251C>T
ENST00000494290.1:c.117C>T	ENSP00000432021.1:p.Tyr39=
ENST00000497693.1:n.2079C>T
ENST00000607784.1:c.546C>T	ENSP00000475569.1:p.Tyr182=
NM_012203.1:c.546C>T	NP_036335.1:p.Tyr182=
XM_005251631.1:c.225C>T	XP_005251688.1:p.Tyr75=
XM_011518073.1:c.144C>T	XP_011516375.1:p.Tyr48=
XR_929374.1:n.991C>T
XM_017015320.2:c.546C>T	XP_016870809.1:p.Tyr182=
XM_017015321.2:c.546C>T	XP_016870810.1:p.Tyr182=
XM_017015323.2:c.144C>T	XP_016870812.1:p.Tyr48=
XM_024447716.1:c.819C>T	XP_024303484.1:p.Tyr273=
XM_024447717.1:c.819C>T	XP_024303485.1:p.Tyr273=
XR_002956828.1:n.834C>T
XR_002956829.1:n.834C>T
XR_002956830.1:n.605C>T
XR_002956831.1:n.280C>T
XR_002956832.1:n.965C>T
NM_012203.2:c.546C>T MANE Select	NP_036335.1:p.Tyr182=