Canonical Allele Identifier: CA192889591

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 1671994
• ClinVar RCV Id: RCV002201460
• dbSNP Id: rs560441686
• gnomAD v3: 9-37428526-T-C
• gnomAD v4: 9-37428526-T-C
• MyVariant Identifiers: chr9:g.37428523T>C (hg19) ; chr9:g.37428526T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428526T>C , CM000671.2:g.37428526T>C	GRCh38
NC_000009.11:g.37428523T>C , CM000671.1:g.37428523T>C	GRCh37
NC_000009.10:g.37418523T>C	NCBI36
NG_008135.1:g.10817T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.447T>C MANE Select	ENSP00000313432.6:p.Tyr149=
ENST00000318158.10:c.447T>C	ENSP00000313432.6:p.Tyr149=
ENST00000377824.8:n.484T>C
ENST00000460882.5:n.474T>C
ENST00000491488.5:n.152T>C
ENST00000493368.5:n.504T>C
ENST00000497693.1:n.821T>C
ENST00000607784.1:c.447T>C	ENSP00000475569.1:p.Tyr149=
NM_012203.1:c.447T>C	NP_036335.1:p.Tyr149=
XM_005251631.1:c.126T>C	XP_005251688.1:p.Tyr42=
XM_011518073.1:c.-316T>C	XP_011516375.1:n.-316T>C
XR_929374.1:n.532T>C
XM_017015320.2:c.447T>C	XP_016870809.1:p.Tyr149=
XM_017015321.2:c.447T>C	XP_016870810.1:p.Tyr149=
XM_017015323.2:c.-316T>C	XP_016870812.1:n.-316T>C
XM_024447716.1:c.720T>C	XP_024303484.1:p.Tyr240=
XM_024447717.1:c.720T>C	XP_024303485.1:p.Tyr240=
XR_002956828.1:n.735T>C
XR_002956829.1:n.735T>C
XR_002956830.1:n.506T>C
XR_002956831.1:n.181T>C
XR_002956832.1:n.506T>C
NM_012203.2:c.447T>C MANE Select	NP_036335.1:p.Tyr149=