Canonical Allele Identifier: CA1123327134

Gene: GRHPR

Linked Data

• dbSNP Id: rs1823253147
• gnomAD v3: 9-37429622-G-T
• gnomAD v4: 9-37429622-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429622G>T , CM000671.2:g.37429622G>T	GRCh38
NC_000009.11:g.37429619G>T , CM000671.1:g.37429619G>T	GRCh37
NC_000009.10:g.37419619G>T	NCBI36
NG_008135.1:g.11913G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.494-110G>T MANE Select	ENSP00000313432.6:n.494-110G>T
ENST00000318158.10:c.494-110G>T	ENSP00000313432.6:n.494-110G>T
ENST00000377824.8:n.531-110G>T
ENST00000460882.5:n.521-110G>T
ENST00000480596.5:n.1085G>T
ENST00000491488.5:n.199-110G>T
ENST00000494290.1:c.-46G>T	ENSP00000432021.1:n.-46G>T
ENST00000497693.1:n.1917G>T
ENST00000607784.1:c.494-110G>T	ENSP00000475569.1:n.494-110G>T
NM_012203.1:c.494-110G>T	NP_036335.1:n.494-110G>T
XM_005251631.1:c.173-110G>T	XP_005251688.1:n.173-110G>T
XM_011518073.1:c.92-110G>T	XP_011516375.1:n.92-110G>T
XR_929374.1:n.939-110G>T
XM_017015320.2:c.494-110G>T	XP_016870809.1:n.494-110G>T
XM_017015321.2:c.494-110G>T	XP_016870810.1:n.494-110G>T
XM_017015323.2:c.92-110G>T	XP_016870812.1:n.92-110G>T
XM_024447716.1:c.767-110G>T	XP_024303484.1:n.767-110G>T
XM_024447717.1:c.767-110G>T	XP_024303485.1:n.767-110G>T
XR_002956828.1:n.782-110G>T
XR_002956829.1:n.782-110G>T
XR_002956830.1:n.553-110G>T
XR_002956831.1:n.228-110G>T
XR_002956832.1:n.913-110G>T
NM_012203.2:c.494-110G>T MANE Select	NP_036335.1:n.494-110G>T