Canonical Allele Identifier: CA373445400

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37436715T>A (hg19) ; chr9:g.37436718T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436718T>A , CM000671.2:g.37436718T>A	GRCh38
NC_000009.11:g.37436715T>A , CM000671.1:g.37436715T>A	GRCh37
NC_000009.10:g.37426715T>A	NCBI36
NG_008135.1:g.19009T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.923T>A MANE Select	ENSP00000313432.6:p.Leu308Ter
ENST00000318158.10:c.923T>A	ENSP00000313432.6:p.Leu308Ter
ENST00000460882.5:n.950T>A
ENST00000480596.5:n.1624T>A
ENST00000494290.1:c.*52-163T>A	ENSP00000432021.1:n.*52-163T>A
ENST00000497693.1:n.4491T>A
NM_012203.1:c.923T>A	NP_036335.1:p.Leu308Ter
XM_005251631.1:c.602T>A	XP_005251688.1:p.Leu201Ter
XM_011518073.1:c.521T>A	XP_011516375.1:p.Leu174Ter
XM_017015320.2:c.946-693T>A	XP_016870809.1:n.946-693T>A
XM_017015321.2:c.866-693T>A	XP_016870810.1:n.866-693T>A
XM_017015323.2:c.544-693T>A	XP_016870812.1:n.544-693T>A
XM_024447716.1:c.1219-693T>A	XP_024303484.1:n.1219-693T>A
XM_024447717.1:c.1139-693T>A	XP_024303485.1:n.1139-693T>A
XR_002956828.1:n.1234-693T>A
XR_002956829.1:n.1154-693T>A
XR_002956830.1:n.2343T>A
XR_002956831.1:n.2018T>A
XR_002956832.1:n.1342T>A
NM_012203.2:c.923T>A MANE Select	NP_036335.1:p.Leu308Ter