Canonical Allele Identifier: CA192888191

Gene: GRHPR

Linked Data

• dbSNP Id: rs11546644
• gnomAD v4: 9-37426553-C-T
• MyVariant Identifiers: chr9:g.37426550C>T (hg19) ; chr9:g.37426553C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37426553C>T , CM000671.2:g.37426553C>T	GRCh38
NC_000009.11:g.37426550C>T , CM000671.1:g.37426550C>T	GRCh37
NC_000009.10:g.37416550C>T	NCBI36
NG_008135.1:g.8844C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.303C>T MANE Select	ENSP00000313432.6:p.Gly101=
ENST00000318158.10:c.303C>T	ENSP00000313432.6:p.Gly101=
ENST00000377824.8:n.340C>T
ENST00000460882.5:n.330C>T
ENST00000487399.5:n.855C>T
ENST00000491488.5:n.110-1931C>T
ENST00000493368.5:n.360C>T
ENST00000607784.1:c.303C>T	ENSP00000475569.1:p.Gly101=
NM_012203.1:c.303C>T	NP_036335.1:p.Gly101=
XM_005251631.1:c.84-1931C>T	XP_005251688.1:n.84-1931C>T
XM_011518073.1:c.-460C>T	XP_011516375.1:n.-460C>T
XR_929374.1:n.388C>T
XM_017015320.2:c.303C>T	XP_016870809.1:p.Gly101=
XM_017015321.2:c.303C>T	XP_016870810.1:p.Gly101=
XM_017015323.2:c.-460C>T	XP_016870812.1:n.-460C>T
XM_024447716.1:c.576C>T	XP_024303484.1:p.Gly192=
XM_024447717.1:c.576C>T	XP_024303485.1:p.Gly192=
XR_002956828.1:n.591C>T
XR_002956829.1:n.591C>T
XR_002956830.1:n.362C>T
XR_002956831.1:n.139-1931C>T
XR_002956832.1:n.362C>T
NM_012203.2:c.303C>T MANE Select	NP_036335.1:p.Gly101=