Canonical Allele Identifier: CA373442643

Gene: GRHPR

Linked Data

• dbSNP Id: rs1206718042
• gnomAD v2: 9-37426645-T-C
• gnomAD v3: 9-37426648-T-C
• gnomAD v4: 9-37426648-T-C
• MyVariant Identifiers: chr9:g.37426645T>C (hg19) ; chr9:g.37426648T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37426648T>C , CM000671.2:g.37426648T>C	GRCh38
NC_000009.11:g.37426645T>C , CM000671.1:g.37426645T>C	GRCh37
NC_000009.10:g.37416645T>C	NCBI36
NG_008135.1:g.8939T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.398T>C MANE Select	ENSP00000313432.6:p.Val133Ala
ENST00000318158.10:c.398T>C	ENSP00000313432.6:p.Val133Ala
ENST00000377824.8:n.435T>C
ENST00000460882.5:n.425T>C
ENST00000487399.5:n.950T>C
ENST00000491488.5:n.110-1836T>C
ENST00000493368.5:n.455T>C
ENST00000607784.1:c.398T>C	ENSP00000475569.1:p.Val133Ala
NM_012203.1:c.398T>C	NP_036335.1:p.Val133Ala
XM_005251631.1:c.84-1836T>C	XP_005251688.1:n.84-1836T>C
XM_011518073.1:c.-365T>C	XP_011516375.1:n.-365T>C
XR_929374.1:n.483T>C
XM_017015320.2:c.398T>C	XP_016870809.1:p.Val133Ala
XM_017015321.2:c.398T>C	XP_016870810.1:p.Val133Ala
XM_017015323.2:c.-365T>C	XP_016870812.1:n.-365T>C
XM_024447716.1:c.671T>C	XP_024303484.1:p.Val224Ala
XM_024447717.1:c.671T>C	XP_024303485.1:p.Val224Ala
XR_002956828.1:n.686T>C
XR_002956829.1:n.686T>C
XR_002956830.1:n.457T>C
XR_002956831.1:n.139-1836T>C
XR_002956832.1:n.457T>C
NM_012203.2:c.398T>C MANE Select	NP_036335.1:p.Val133Ala