Canonical Allele Identifier: CA192890543

Gene: GRHPR

Linked Data

• dbSNP Id: rs952908719
• gnomAD v2: 9-37429741-C-T
• gnomAD v3: 9-37429744-C-T
• gnomAD v4: 9-37429744-C-T
• MyVariant Identifiers: chr9:g.37429741C>T (hg19) ; chr9:g.37429744C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429744C>T , CM000671.2:g.37429744C>T	GRCh38
NC_000009.11:g.37429741C>T , CM000671.1:g.37429741C>T	GRCh37
NC_000009.10:g.37419741C>T	NCBI36
NG_008135.1:g.12035C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.506C>T MANE Select	ENSP00000313432.6:p.Ala169Val
ENST00000318158.10:c.506C>T	ENSP00000313432.6:p.Ala169Val
ENST00000377824.8:n.543C>T
ENST00000460882.5:n.533C>T
ENST00000480596.5:n.1207C>T
ENST00000491488.5:n.211C>T
ENST00000494290.1:c.77C>T	ENSP00000432021.1:p.Ala26Val
ENST00000497693.1:n.2039C>T
ENST00000607784.1:c.506C>T	ENSP00000475569.1:p.Ala169Val
NM_012203.1:c.506C>T	NP_036335.1:p.Ala169Val
XM_005251631.1:c.185C>T	XP_005251688.1:p.Ala62Val
XM_011518073.1:c.104C>T	XP_011516375.1:p.Ala35Val
XR_929374.1:n.951C>T
XM_017015320.2:c.506C>T	XP_016870809.1:p.Ala169Val
XM_017015321.2:c.506C>T	XP_016870810.1:p.Ala169Val
XM_017015323.2:c.104C>T	XP_016870812.1:p.Ala35Val
XM_024447716.1:c.779C>T	XP_024303484.1:p.Ala260Val
XM_024447717.1:c.779C>T	XP_024303485.1:p.Ala260Val
XR_002956828.1:n.794C>T
XR_002956829.1:n.794C>T
XR_002956830.1:n.565C>T
XR_002956831.1:n.240C>T
XR_002956832.1:n.925C>T
NM_012203.2:c.506C>T MANE Select	NP_036335.1:p.Ala169Val