Canonical Allele Identifier: CA5059000

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 366853
• ClinVar RCV Id: RCV000279370
• dbSNP Id: rs761490627
• ExAC: 9:37426555 C / T
• gnomAD v2: 9-37426555-C-T
• gnomAD v4: 9-37426558-C-T
• MyVariant Identifiers: chr9:g.37426555C>T (hg19) ; chr9:g.37426558C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37426558C>T , CM000671.2:g.37426558C>T	GRCh38
NC_000009.11:g.37426555C>T , CM000671.1:g.37426555C>T	GRCh37
NC_000009.10:g.37416555C>T	NCBI36
NG_008135.1:g.8849C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.308C>T MANE Select	ENSP00000313432.6:p.Thr103Ile
ENST00000318158.10:c.308C>T	ENSP00000313432.6:p.Thr103Ile
ENST00000377824.8:n.345C>T
ENST00000460882.5:n.335C>T
ENST00000487399.5:n.860C>T
ENST00000491488.5:n.110-1926C>T
ENST00000493368.5:n.365C>T
ENST00000607784.1:c.308C>T	ENSP00000475569.1:p.Thr103Ile
NM_012203.1:c.308C>T	NP_036335.1:p.Thr103Ile
XM_005251631.1:c.84-1926C>T	XP_005251688.1:n.84-1926C>T
XM_011518073.1:c.-455C>T	XP_011516375.1:n.-455C>T
XR_929374.1:n.393C>T
XM_017015320.2:c.308C>T	XP_016870809.1:p.Thr103Ile
XM_017015321.2:c.308C>T	XP_016870810.1:p.Thr103Ile
XM_017015323.2:c.-455C>T	XP_016870812.1:n.-455C>T
XM_024447716.1:c.581C>T	XP_024303484.1:p.Thr194Ile
XM_024447717.1:c.581C>T	XP_024303485.1:p.Thr194Ile
XR_002956828.1:n.596C>T
XR_002956829.1:n.596C>T
XR_002956830.1:n.367C>T
XR_002956831.1:n.139-1926C>T
XR_002956832.1:n.367C>T
NM_012203.2:c.308C>T MANE Select	NP_036335.1:p.Thr103Ile