Canonical Allele Identifier: CA5059162

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37430538C>T , CM000671.2:g.37430538C>T	GRCh38
NC_000009.11:g.37430535C>T , CM000671.1:g.37430535C>T	GRCh37
NC_000009.10:g.37420535C>T	NCBI36
NG_008135.1:g.12829C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012203.2:c.626C>T MANE Select	NP_036335.1:p.Ser209Phe
ENST00000318158.11:c.626C>T MANE Select	ENSP00000313432.6:p.Ser209Phe
NM_012203.1:c.626C>T	NP_036335.1:p.Ser209Phe
ENST00000318158.10:c.626C>T	ENSP00000313432.6:p.Ser209Phe
ENST00000377824.8:n.663C>T
ENST00000460882.5:n.653C>T
ENST00000480596.5:n.1327C>T
ENST00000482603.1:n.79C>T
ENST00000491488.5:n.331C>T
ENST00000494290.1:c.197C>T	ENSP00000432021.1:p.Ser66Phe
ENST00000497693.1:n.2833C>T
ENST00000607784.1:c.626C>T	ENSP00000475569.1:p.Ser209Phe
XM_005251631.1:c.305C>T	XP_005251688.1:p.Ser102Phe
XM_011518073.1:c.224C>T	XP_011516375.1:p.Ser75Phe
XM_017015320.2:c.626C>T	XP_016870809.1:p.Ser209Phe
XM_017015321.2:c.626C>T	XP_016870810.1:p.Ser209Phe
XM_017015323.2:c.224C>T	XP_016870812.1:p.Ser75Phe
XM_024447716.1:c.899C>T	XP_024303484.1:p.Ser300Phe
XM_024447717.1:c.899C>T	XP_024303485.1:p.Ser300Phe
XR_002956828.1:n.914C>T
XR_002956829.1:n.914C>T
XR_002956830.1:n.685C>T
XR_002956831.1:n.360C>T
XR_002956832.1:n.1045C>T
XR_929374.1:n.1071C>T