Canonical Allele Identifier: CA373444522

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37432088C>T (hg19) ; chr9:g.37432091C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37432091C>T , CM000671.2:g.37432091C>T	GRCh38
NC_000009.11:g.37432088C>T , CM000671.1:g.37432088C>T	GRCh37
NC_000009.10:g.37422088C>T	NCBI36
NG_008135.1:g.14382C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.818C>T MANE Select	ENSP00000313432.6:p.Pro273Leu
ENST00000318158.10:c.818C>T	ENSP00000313432.6:p.Pro273Leu
ENST00000460882.5:n.845C>T
ENST00000480596.5:n.1519C>T
ENST00000482603.1:n.271C>T
ENST00000491488.5:n.523C>T
ENST00000494290.1:c.*51+940C>T	ENSP00000432021.1:n.*51+940C>T
ENST00000497693.1:n.4386C>T
ENST00000512404.2:n.5C>T
ENST00000607784.1:c.818C>T	ENSP00000475569.1:p.Pro273Leu
NM_012203.1:c.818C>T	NP_036335.1:p.Pro273Leu
XM_005251631.1:c.497C>T	XP_005251688.1:p.Pro166Leu
XM_011518073.1:c.416C>T	XP_011516375.1:p.Pro139Leu
XM_017015320.2:c.818C>T	XP_016870809.1:p.Pro273Leu
XM_017015321.2:c.818C>T	XP_016870810.1:p.Pro273Leu
XM_017015323.2:c.416C>T	XP_016870812.1:p.Pro139Leu
XM_024447716.1:c.1091C>T	XP_024303484.1:p.Pro364Leu
XM_024447717.1:c.1091C>T	XP_024303485.1:p.Pro364Leu
XR_002956828.1:n.1106C>T
XR_002956829.1:n.1106C>T
XR_002956830.1:n.2238C>T
XR_002956831.1:n.1913C>T
XR_002956832.1:n.1237C>T
NM_012203.2:c.818C>T MANE Select	NP_036335.1:p.Pro273Leu