Canonical Allele Identifier: CA373443462

Gene: GRHPR

Linked Data

• dbSNP Id: rs1444149256
• gnomAD v2: 9-37429800-C-G
• MyVariant Identifiers: chr9:g.37429800C>G (hg19) ; chr9:g.37429803C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429803C>G , CM000671.2:g.37429803C>G	GRCh38
NC_000009.11:g.37429800C>G , CM000671.1:g.37429800C>G	GRCh37
NC_000009.10:g.37419800C>G	NCBI36
NG_008135.1:g.12094C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.565C>G MANE Select	ENSP00000313432.6:p.Pro189Ala
ENST00000318158.10:c.565C>G	ENSP00000313432.6:p.Pro189Ala
ENST00000377824.8:n.602C>G
ENST00000460882.5:n.592C>G
ENST00000480596.5:n.1266C>G
ENST00000482603.1:n.18C>G
ENST00000491488.5:n.270C>G
ENST00000494290.1:c.136C>G	ENSP00000432021.1:p.Pro46Ala
ENST00000497693.1:n.2098C>G
ENST00000607784.1:c.565C>G	ENSP00000475569.1:p.Pro189Ala
NM_012203.1:c.565C>G	NP_036335.1:p.Pro189Ala
XM_005251631.1:c.244C>G	XP_005251688.1:p.Pro82Ala
XM_011518073.1:c.163C>G	XP_011516375.1:p.Pro55Ala
XR_929374.1:n.1010C>G
XM_017015320.2:c.565C>G	XP_016870809.1:p.Pro189Ala
XM_017015321.2:c.565C>G	XP_016870810.1:p.Pro189Ala
XM_017015323.2:c.163C>G	XP_016870812.1:p.Pro55Ala
XM_024447716.1:c.838C>G	XP_024303484.1:p.Pro280Ala
XM_024447717.1:c.838C>G	XP_024303485.1:p.Pro280Ala
XR_002956828.1:n.853C>G
XR_002956829.1:n.853C>G
XR_002956830.1:n.624C>G
XR_002956831.1:n.299C>G
XR_002956832.1:n.984C>G
NM_012203.2:c.565C>G MANE Select	NP_036335.1:p.Pro189Ala