Canonical Allele Identifier: CA373443287

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37429750T>A (hg19) ; chr9:g.37429753T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429753T>A , CM000671.2:g.37429753T>A	GRCh38
NC_000009.11:g.37429750T>A , CM000671.1:g.37429750T>A	GRCh37
NC_000009.10:g.37419750T>A	NCBI36
NG_008135.1:g.12044T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.515T>A MANE Select	ENSP00000313432.6:p.Leu172Gln
ENST00000318158.10:c.515T>A	ENSP00000313432.6:p.Leu172Gln
ENST00000377824.8:n.552T>A
ENST00000460882.5:n.542T>A
ENST00000480596.5:n.1216T>A
ENST00000491488.5:n.220T>A
ENST00000494290.1:c.86T>A	ENSP00000432021.1:p.Leu29Gln
ENST00000497693.1:n.2048T>A
ENST00000607784.1:c.515T>A	ENSP00000475569.1:p.Leu172Gln
NM_012203.1:c.515T>A	NP_036335.1:p.Leu172Gln
XM_005251631.1:c.194T>A	XP_005251688.1:p.Leu65Gln
XM_011518073.1:c.113T>A	XP_011516375.1:p.Leu38Gln
XR_929374.1:n.960T>A
XM_017015320.2:c.515T>A	XP_016870809.1:p.Leu172Gln
XM_017015321.2:c.515T>A	XP_016870810.1:p.Leu172Gln
XM_017015323.2:c.113T>A	XP_016870812.1:p.Leu38Gln
XM_024447716.1:c.788T>A	XP_024303484.1:p.Leu263Gln
XM_024447717.1:c.788T>A	XP_024303485.1:p.Leu263Gln
XR_002956828.1:n.803T>A
XR_002956829.1:n.803T>A
XR_002956830.1:n.574T>A
XR_002956831.1:n.249T>A
XR_002956832.1:n.934T>A
NM_012203.2:c.515T>A MANE Select	NP_036335.1:p.Leu172Gln