Canonical Allele Identifier: CA373445479

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37436748G>T (hg19) ; chr9:g.37436751G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436751G>T , CM000671.2:g.37436751G>T	GRCh38
NC_000009.11:g.37436748G>T , CM000671.1:g.37436748G>T	GRCh37
NC_000009.10:g.37426748G>T	NCBI36
NG_008135.1:g.19042G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.956G>T MANE Select	ENSP00000313432.6:p.Gly319Val
ENST00000318158.10:c.956G>T	ENSP00000313432.6:p.Gly319Val
ENST00000460882.5:n.983G>T
ENST00000480596.5:n.1657G>T
ENST00000494290.1:c.*52-130G>T	ENSP00000432021.1:n.*52-130G>T
ENST00000497693.1:n.4524G>T
NM_012203.1:c.956G>T	NP_036335.1:p.Gly319Val
XM_005251631.1:c.635G>T	XP_005251688.1:p.Gly212Val
XM_011518073.1:c.554G>T	XP_011516375.1:p.Gly185Val
XM_017015320.2:c.946-660G>T	XP_016870809.1:n.946-660G>T
XM_017015321.2:c.866-660G>T	XP_016870810.1:n.866-660G>T
XM_017015323.2:c.544-660G>T	XP_016870812.1:n.544-660G>T
XM_024447716.1:c.1219-660G>T	XP_024303484.1:n.1219-660G>T
XM_024447717.1:c.1139-660G>T	XP_024303485.1:n.1139-660G>T
XR_002956828.1:n.1234-660G>T
XR_002956829.1:n.1154-660G>T
XR_002956830.1:n.2376G>T
XR_002956831.1:n.2051G>T
XR_002956832.1:n.1375G>T
NM_012203.2:c.956G>T MANE Select	NP_036335.1:p.Gly319Val