Canonical Allele Identifier: CA5058886

Gene: GRHPR

Linked Data

• dbSNP Id: rs775288188
• ExAC: 9:37422754 C / T
• gnomAD v2: 9-37422754-C-T
• gnomAD v4: 9-37422757-C-T
• MyVariant Identifiers: chr9:g.37422754C>T (hg19) ; chr9:g.37422757C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37422757C>T , CM000671.2:g.37422757C>T	GRCh38
NC_000009.11:g.37422754C>T , CM000671.1:g.37422754C>T	GRCh37
NC_000009.10:g.37412754C>T	NCBI36
NG_008135.1:g.5048C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.7C>T MANE Select	ENSP00000313432.6:p.Pro3Ser
ENST00000318158.10:c.7C>T	ENSP00000313432.6:p.Pro3Ser
ENST00000377824.8:n.44C>T
ENST00000460882.5:n.62C>T
ENST00000487399.5:n.44C>T
ENST00000491488.5:n.33C>T
ENST00000493368.5:n.92C>T
ENST00000607784.1:c.7C>T	ENSP00000475569.1:p.Pro3Ser
NM_012203.1:c.7C>T	NP_036335.1:p.Pro3Ser
XM_005251631.1:c.7C>T	XP_005251688.1:p.Pro3Ser
XM_011518073.1:c.-756C>T	XP_011516375.1:n.-756C>T
XR_929374.1:n.92C>T
XM_017015320.2:c.7C>T	XP_016870809.1:p.Pro3Ser
XM_017015321.2:c.7C>T	XP_016870810.1:p.Pro3Ser
XM_017015323.2:c.-756C>T	XP_016870812.1:n.-756C>T
XM_024447716.1:c.308C>T	XP_024303484.1:p.Thr103Ile
XM_024447717.1:c.308C>T	XP_024303485.1:p.Thr103Ile
XR_002956828.1:n.323C>T
XR_002956829.1:n.323C>T
XR_002956830.1:n.66C>T
XR_002956831.1:n.62C>T
XR_002956832.1:n.66C>T
NM_012203.2:c.7C>T MANE Select	NP_036335.1:p.Pro3Ser