Canonical Allele Identifier: CA373444379

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37432022A>T (hg19) ; chr9:g.37432025A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37432025A>T , CM000671.2:g.37432025A>T	GRCh38
NC_000009.11:g.37432022A>T , CM000671.1:g.37432022A>T	GRCh37
NC_000009.10:g.37422022A>T	NCBI36
NG_008135.1:g.14316A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.752A>T MANE Select	ENSP00000313432.6:p.Gln251Leu
ENST00000318158.10:c.752A>T	ENSP00000313432.6:p.Gln251Leu
ENST00000460882.5:n.779A>T
ENST00000480596.5:n.1453A>T
ENST00000482603.1:n.205A>T
ENST00000491488.5:n.457A>T
ENST00000494290.1:c.*51+874A>T	ENSP00000432021.1:n.*51+874A>T
ENST00000497693.1:n.4320A>T
ENST00000607784.1:c.752A>T	ENSP00000475569.1:p.Gln251Leu
NM_012203.1:c.752A>T	NP_036335.1:p.Gln251Leu
XM_005251631.1:c.431A>T	XP_005251688.1:p.Gln144Leu
XM_011518073.1:c.350A>T	XP_011516375.1:p.Gln117Leu
XM_017015320.2:c.752A>T	XP_016870809.1:p.Gln251Leu
XM_017015321.2:c.752A>T	XP_016870810.1:p.Gln251Leu
XM_017015323.2:c.350A>T	XP_016870812.1:p.Gln117Leu
XM_024447716.1:c.1025A>T	XP_024303484.1:p.Gln342Leu
XM_024447717.1:c.1025A>T	XP_024303485.1:p.Gln342Leu
XR_002956828.1:n.1040A>T
XR_002956829.1:n.1040A>T
XR_002956830.1:n.2172A>T
XR_002956831.1:n.1847A>T
XR_002956832.1:n.1171A>T
NM_012203.2:c.752A>T MANE Select	NP_036335.1:p.Gln251Leu