Canonical Allele Identifier: CA373445327

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37436678A>T (hg19) ; chr9:g.37436681A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436681A>T , CM000671.2:g.37436681A>T	GRCh38
NC_000009.11:g.37436678A>T , CM000671.1:g.37436678A>T	GRCh37
NC_000009.10:g.37426678A>T	NCBI36
NG_008135.1:g.18972A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.886A>T MANE Select	ENSP00000313432.6:p.Ser296Cys
ENST00000318158.10:c.886A>T	ENSP00000313432.6:p.Ser296Cys
ENST00000460882.5:n.913A>T
ENST00000480596.5:n.1587A>T
ENST00000491488.5:n.591A>T
ENST00000494290.1:c.*52-200A>T	ENSP00000432021.1:n.*52-200A>T
ENST00000497693.1:n.4454A>T
NM_012203.1:c.886A>T	NP_036335.1:p.Ser296Cys
XM_005251631.1:c.565A>T	XP_005251688.1:p.Ser189Cys
XM_011518073.1:c.484A>T	XP_011516375.1:p.Ser162Cys
XM_017015320.2:c.946-730A>T	XP_016870809.1:n.946-730A>T
XM_017015321.2:c.866-730A>T	XP_016870810.1:n.866-730A>T
XM_017015323.2:c.544-730A>T	XP_016870812.1:n.544-730A>T
XM_024447716.1:c.1219-730A>T	XP_024303484.1:n.1219-730A>T
XM_024447717.1:c.1139-730A>T	XP_024303485.1:n.1139-730A>T
XR_002956828.1:n.1234-730A>T
XR_002956829.1:n.1154-730A>T
XR_002956830.1:n.2306A>T
XR_002956831.1:n.1981A>T
XR_002956832.1:n.1305A>T
NM_012203.2:c.886A>T MANE Select	NP_036335.1:p.Ser296Cys