Canonical Allele Identifier: CA5059123

Gene: GRHPR

Linked Data

• dbSNP Id: rs199695880
• ExAC: 9:37429691 C / T
• gnomAD v2: 9-37429691-C-T
• gnomAD v3: 9-37429694-C-T
• gnomAD v4: 9-37429694-C-T
• MyVariant Identifiers: chr9:g.37429691C>T (hg19) ; chr9:g.37429694C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429694C>T , CM000671.2:g.37429694C>T	GRCh38
NC_000009.11:g.37429691C>T , CM000671.1:g.37429691C>T	GRCh37
NC_000009.10:g.37419691C>T	NCBI36
NG_008135.1:g.11985C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.494-38C>T MANE Select	ENSP00000313432.6:n.494-38C>T
ENST00000318158.10:c.494-38C>T	ENSP00000313432.6:n.494-38C>T
ENST00000377824.8:n.531-38C>T
ENST00000460882.5:n.521-38C>T
ENST00000480596.5:n.1157C>T
ENST00000491488.5:n.199-38C>T
ENST00000494290.1:c.27C>T	ENSP00000432021.1:p.Cys9=
ENST00000497693.1:n.1989C>T
ENST00000607784.1:c.494-38C>T	ENSP00000475569.1:n.494-38C>T
NM_012203.1:c.494-38C>T	NP_036335.1:n.494-38C>T
XM_005251631.1:c.173-38C>T	XP_005251688.1:n.173-38C>T
XM_011518073.1:c.92-38C>T	XP_011516375.1:n.92-38C>T
XR_929374.1:n.939-38C>T
XM_017015320.2:c.494-38C>T	XP_016870809.1:n.494-38C>T
XM_017015321.2:c.494-38C>T	XP_016870810.1:n.494-38C>T
XM_017015323.2:c.92-38C>T	XP_016870812.1:n.92-38C>T
XM_024447716.1:c.767-38C>T	XP_024303484.1:n.767-38C>T
XM_024447717.1:c.767-38C>T	XP_024303485.1:n.767-38C>T
XR_002956828.1:n.782-38C>T
XR_002956829.1:n.782-38C>T
XR_002956830.1:n.553-38C>T
XR_002956831.1:n.228-38C>T
XR_002956832.1:n.913-38C>T
NM_012203.2:c.494-38C>T MANE Select	NP_036335.1:n.494-38C>T