Canonical Allele Identifier: CA373442742

Gene: GRHPR

Linked Data

• dbSNP Id: rs1823191681
• gnomAD v4: 9-37428516-T-C
• MyVariant Identifiers: chr9:g.37428513T>C (hg19) ; chr9:g.37428516T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428516T>C , CM000671.2:g.37428516T>C	GRCh38
NC_000009.11:g.37428513T>C , CM000671.1:g.37428513T>C	GRCh37
NC_000009.10:g.37418513T>C	NCBI36
NG_008135.1:g.10807T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.437T>C MANE Select	ENSP00000313432.6:p.Leu146Pro
ENST00000318158.10:c.437T>C	ENSP00000313432.6:p.Leu146Pro
ENST00000377824.8:n.474T>C
ENST00000460882.5:n.464T>C
ENST00000491488.5:n.142T>C
ENST00000493368.5:n.494T>C
ENST00000497693.1:n.811T>C
ENST00000607784.1:c.437T>C	ENSP00000475569.1:p.Leu146Pro
NM_012203.1:c.437T>C	NP_036335.1:p.Leu146Pro
XM_005251631.1:c.116T>C	XP_005251688.1:p.Leu39Pro
XM_011518073.1:c.-326T>C	XP_011516375.1:n.-326T>C
XR_929374.1:n.522T>C
XM_017015320.2:c.437T>C	XP_016870809.1:p.Leu146Pro
XM_017015321.2:c.437T>C	XP_016870810.1:p.Leu146Pro
XM_017015323.2:c.-326T>C	XP_016870812.1:n.-326T>C
XM_024447716.1:c.710T>C	XP_024303484.1:p.Leu237Pro
XM_024447717.1:c.710T>C	XP_024303485.1:p.Leu237Pro
XR_002956828.1:n.725T>C
XR_002956829.1:n.725T>C
XR_002956830.1:n.496T>C
XR_002956831.1:n.171T>C
XR_002956832.1:n.496T>C
NM_012203.2:c.437T>C MANE Select	NP_036335.1:p.Leu146Pro