Canonical Allele Identifier: CA373444374

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37432020C>G (hg19) ; chr9:g.37432023C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37432023C>G , CM000671.2:g.37432023C>G	GRCh38
NC_000009.11:g.37432020C>G , CM000671.1:g.37432020C>G	GRCh37
NC_000009.10:g.37422020C>G	NCBI36
NG_008135.1:g.14314C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.750C>G MANE Select	ENSP00000313432.6:p.Asn250Lys
ENST00000318158.10:c.750C>G	ENSP00000313432.6:p.Asn250Lys
ENST00000460882.5:n.777C>G
ENST00000480596.5:n.1451C>G
ENST00000482603.1:n.203C>G
ENST00000491488.5:n.455C>G
ENST00000494290.1:c.*51+872C>G	ENSP00000432021.1:n.*51+872C>G
ENST00000497693.1:n.4318C>G
ENST00000607784.1:c.750C>G	ENSP00000475569.1:p.Asn250Lys
NM_012203.1:c.750C>G	NP_036335.1:p.Asn250Lys
XM_005251631.1:c.429C>G	XP_005251688.1:p.Asn143Lys
XM_011518073.1:c.348C>G	XP_011516375.1:p.Asn116Lys
XM_017015320.2:c.750C>G	XP_016870809.1:p.Asn250Lys
XM_017015321.2:c.750C>G	XP_016870810.1:p.Asn250Lys
XM_017015323.2:c.348C>G	XP_016870812.1:p.Asn116Lys
XM_024447716.1:c.1023C>G	XP_024303484.1:p.Asn341Lys
XM_024447717.1:c.1023C>G	XP_024303485.1:p.Asn341Lys
XR_002956828.1:n.1038C>G
XR_002956829.1:n.1038C>G
XR_002956830.1:n.2170C>G
XR_002956831.1:n.1845C>G
XR_002956832.1:n.1169C>G
NM_012203.2:c.750C>G MANE Select	NP_036335.1:p.Asn250Lys