Canonical Allele Identifier: CA465003930

Gene: GRHPR

Linked Data

• dbSNP Id: rs2118866044
• gnomAD v3: 9-37426649-G-T
• gnomAD v4: 9-37426649-G-T
• MyVariant Identifiers: chr9:g.37426646G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37426649G>T , CM000671.2:g.37426649G>T	GRCh38
NC_000009.11:g.37426646G>T , CM000671.1:g.37426646G>T	GRCh37
NC_000009.10:g.37416646G>T	NCBI36
NG_008135.1:g.8940G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.399G>T MANE Select	ENSP00000313432.6:p.Val133=
ENST00000318158.10:c.399G>T	ENSP00000313432.6:p.Val133=
ENST00000377824.8:n.436G>T
ENST00000460882.5:n.426G>T
ENST00000487399.5:n.951G>T
ENST00000491488.5:n.110-1835G>T
ENST00000493368.5:n.456G>T
ENST00000607784.1:c.399G>T	ENSP00000475569.1:p.Val133=
NM_012203.1:c.399G>T	NP_036335.1:p.Val133=
XM_005251631.1:c.84-1835G>T	XP_005251688.1:n.84-1835G>T
XM_011518073.1:c.-364G>T	XP_011516375.1:n.-364G>T
XR_929374.1:n.484G>T
XM_017015320.2:c.399G>T	XP_016870809.1:p.Val133=
XM_017015321.2:c.399G>T	XP_016870810.1:p.Val133=
XM_017015323.2:c.-364G>T	XP_016870812.1:n.-364G>T
XM_024447716.1:c.672G>T	XP_024303484.1:p.Val224=
XM_024447717.1:c.672G>T	XP_024303485.1:p.Val224=
XR_002956828.1:n.687G>T
XR_002956829.1:n.687G>T
XR_002956830.1:n.458G>T
XR_002956831.1:n.139-1835G>T
XR_002956832.1:n.458G>T
NM_012203.2:c.399G>T MANE Select	NP_036335.1:p.Val133=