Canonical Allele Identifier: CA5059059

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 753527
• ClinVar RCV Id: RCV000930773
• dbSNP Id: rs140612021
• ExAC: 9:37428532 G / A
• gnomAD v2: 9-37428532-G-A
• gnomAD v3: 9-37428535-G-A
• gnomAD v4: 9-37428535-G-A
• MyVariant Identifiers: chr9:g.37428532G>A (hg19) ; chr9:g.37428535G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428535G>A , CM000671.2:g.37428535G>A	GRCh38
NC_000009.11:g.37428532G>A , CM000671.1:g.37428532G>A	GRCh37
NC_000009.10:g.37418532G>A	NCBI36
NG_008135.1:g.10826G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.456G>A MANE Select	ENSP00000313432.6:p.Thr152=
ENST00000318158.10:c.456G>A	ENSP00000313432.6:p.Thr152=
ENST00000377824.8:n.493G>A
ENST00000460882.5:n.483G>A
ENST00000491488.5:n.161G>A
ENST00000493368.5:n.513G>A
ENST00000497693.1:n.830G>A
ENST00000607784.1:c.456G>A	ENSP00000475569.1:p.Thr152=
NM_012203.1:c.456G>A	NP_036335.1:p.Thr152=
XM_005251631.1:c.135G>A	XP_005251688.1:p.Thr45=
XM_011518073.1:c.-307G>A	XP_011516375.1:n.-307G>A
XR_929374.1:n.541G>A
XM_017015320.2:c.456G>A	XP_016870809.1:p.Thr152=
XM_017015321.2:c.456G>A	XP_016870810.1:p.Thr152=
XM_017015323.2:c.-307G>A	XP_016870812.1:n.-307G>A
XM_024447716.1:c.729G>A	XP_024303484.1:p.Thr243=
XM_024447717.1:c.729G>A	XP_024303485.1:p.Thr243=
XR_002956828.1:n.744G>A
XR_002956829.1:n.744G>A
XR_002956830.1:n.515G>A
XR_002956831.1:n.190G>A
XR_002956832.1:n.515G>A
NM_012203.2:c.456G>A MANE Select	NP_036335.1:p.Thr152=