Canonical Allele Identifier: CA373443720

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37430534C>T , CM000671.2:g.37430534C>T	GRCh38
NC_000009.11:g.37430531C>T , CM000671.1:g.37430531C>T	GRCh37
NC_000009.10:g.37420531C>T	NCBI36
NG_008135.1:g.12825C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012203.2:c.622C>T MANE Select	NP_036335.1:p.Gln208Ter
ENST00000318158.11:c.622C>T MANE Select	ENSP00000313432.6:p.Gln208Ter
NM_012203.1:c.622C>T	NP_036335.1:p.Gln208Ter
ENST00000318158.10:c.622C>T	ENSP00000313432.6:p.Gln208Ter
ENST00000377824.8:n.659C>T
ENST00000460882.5:n.649C>T
ENST00000480596.5:n.1323C>T
ENST00000482603.1:n.75C>T
ENST00000491488.5:n.327C>T
ENST00000494290.1:c.193C>T	ENSP00000432021.1:p.Gln65Ter
ENST00000497693.1:n.2829C>T
ENST00000607784.1:c.622C>T	ENSP00000475569.1:p.Gln208Ter
XM_005251631.1:c.301C>T	XP_005251688.1:p.Gln101Ter
XM_011518073.1:c.220C>T	XP_011516375.1:p.Gln74Ter
XM_017015320.2:c.622C>T	XP_016870809.1:p.Gln208Ter
XM_017015321.2:c.622C>T	XP_016870810.1:p.Gln208Ter
XM_017015323.2:c.220C>T	XP_016870812.1:p.Gln74Ter
XM_024447716.1:c.895C>T	XP_024303484.1:p.Gln299Ter
XM_024447717.1:c.895C>T	XP_024303485.1:p.Gln299Ter
XR_002956828.1:n.910C>T
XR_002956829.1:n.910C>T
XR_002956830.1:n.681C>T
XR_002956831.1:n.356C>T
XR_002956832.1:n.1041C>T
XR_929374.1:n.1067C>T