Canonical Allele Identifier: CA373444460

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 1494976
• ClinVar RCV Id: RCV001989689
• dbSNP Id: rs1205587022
• gnomAD v2: 9-37432058-T-C
• gnomAD v3: 9-37432061-T-C
• gnomAD v4: 9-37432061-T-C
• MyVariant Identifiers: chr9:g.37432058T>C (hg19) ; chr9:g.37432061T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37432061T>C , CM000671.2:g.37432061T>C	GRCh38
NC_000009.11:g.37432058T>C , CM000671.1:g.37432058T>C	GRCh37
NC_000009.10:g.37422058T>C	NCBI36
NG_008135.1:g.14352T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.788T>C MANE Select	ENSP00000313432.6:p.Ile263Thr
ENST00000318158.10:c.788T>C	ENSP00000313432.6:p.Ile263Thr
ENST00000460882.5:n.815T>C
ENST00000480596.5:n.1489T>C
ENST00000482603.1:n.241T>C
ENST00000491488.5:n.493T>C
ENST00000494290.1:c.*51+910T>C	ENSP00000432021.1:n.*51+910T>C
ENST00000497693.1:n.4356T>C
ENST00000607784.1:c.788T>C	ENSP00000475569.1:p.Ile263Thr
NM_012203.1:c.788T>C	NP_036335.1:p.Ile263Thr
XM_005251631.1:c.467T>C	XP_005251688.1:p.Ile156Thr
XM_011518073.1:c.386T>C	XP_011516375.1:p.Ile129Thr
XM_017015320.2:c.788T>C	XP_016870809.1:p.Ile263Thr
XM_017015321.2:c.788T>C	XP_016870810.1:p.Ile263Thr
XM_017015323.2:c.386T>C	XP_016870812.1:p.Ile129Thr
XM_024447716.1:c.1061T>C	XP_024303484.1:p.Ile354Thr
XM_024447717.1:c.1061T>C	XP_024303485.1:p.Ile354Thr
XR_002956828.1:n.1076T>C
XR_002956829.1:n.1076T>C
XR_002956830.1:n.2208T>C
XR_002956831.1:n.1883T>C
XR_002956832.1:n.1207T>C
NM_012203.2:c.788T>C MANE Select	NP_036335.1:p.Ile263Thr