Canonical Allele Identifier: CA5059050

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 3001022
• ClinVar RCV Id: RCV003852165
• dbSNP Id: rs754245462
• ExAC: 9:37428472 T / C
• gnomAD v2: 9-37428472-T-C
• gnomAD v3: 9-37428475-T-C
• gnomAD v4: 9-37428475-T-C
• MyVariant Identifiers: chr9:g.37428472T>C (hg19) ; chr9:g.37428475T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428475T>C , CM000671.2:g.37428475T>C	GRCh38
NC_000009.11:g.37428472T>C , CM000671.1:g.37428472T>C	GRCh37
NC_000009.10:g.37418472T>C	NCBI36
NG_008135.1:g.10766T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.405-9T>C MANE Select	ENSP00000313432.6:n.405-9T>C
ENST00000318158.10:c.405-9T>C	ENSP00000313432.6:n.405-9T>C
ENST00000377824.8:n.442-9T>C
ENST00000460882.5:n.432-9T>C
ENST00000491488.5:n.110-9T>C
ENST00000493368.5:n.462-9T>C
ENST00000497693.1:n.770T>C
ENST00000607784.1:c.405-9T>C	ENSP00000475569.1:n.405-9T>C
NM_012203.1:c.405-9T>C	NP_036335.1:n.405-9T>C
XM_005251631.1:c.84-9T>C	XP_005251688.1:n.84-9T>C
XM_011518073.1:c.-358-9T>C	XP_011516375.1:n.-358-9T>C
XR_929374.1:n.490-9T>C
XM_017015320.2:c.405-9T>C	XP_016870809.1:n.405-9T>C
XM_017015321.2:c.405-9T>C	XP_016870810.1:n.405-9T>C
XM_017015323.2:c.-358-9T>C	XP_016870812.1:n.-358-9T>C
XM_024447716.1:c.678-9T>C	XP_024303484.1:n.678-9T>C
XM_024447717.1:c.678-9T>C	XP_024303485.1:n.678-9T>C
XR_002956828.1:n.693-9T>C
XR_002956829.1:n.693-9T>C
XR_002956830.1:n.464-9T>C
XR_002956831.1:n.139-9T>C
XR_002956832.1:n.464-9T>C
NM_012203.2:c.405-9T>C MANE Select	NP_036335.1:n.405-9T>C