Canonical Allele Identifier: CA863719030

Gene: GRHPR

Linked Data

• dbSNP Id: rs1404664440
• gnomAD v3: 9-37429955-C-T
• gnomAD v4: 9-37429955-C-T
• MyVariant Identifiers: chr9:g.37429952C>T (hg19) ; chr9:g.37429955C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429955C>T , CM000671.2:g.37429955C>T	GRCh38
NC_000009.11:g.37429952C>T , CM000671.1:g.37429952C>T	GRCh37
NC_000009.10:g.37419952C>T	NCBI36
NG_008135.1:g.12246C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.598+119C>T MANE Select	ENSP00000313432.6:n.598+119C>T
ENST00000318158.10:c.598+119C>T	ENSP00000313432.6:n.598+119C>T
ENST00000377824.8:n.635+119C>T
ENST00000460882.5:n.625+119C>T
ENST00000480596.5:n.1299+119C>T
ENST00000482603.1:n.51+119C>T
ENST00000491488.5:n.303+119C>T
ENST00000494290.1:c.169+119C>T	ENSP00000432021.1:n.169+119C>T
ENST00000497693.1:n.2250C>T
ENST00000607784.1:c.598+119C>T	ENSP00000475569.1:n.598+119C>T
NM_012203.1:c.598+119C>T	NP_036335.1:n.598+119C>T
XM_005251631.1:c.277+119C>T	XP_005251688.1:n.277+119C>T
XM_011518073.1:c.196+119C>T	XP_011516375.1:n.196+119C>T
XR_929374.1:n.1043+119C>T
XM_017015320.2:c.598+119C>T	XP_016870809.1:n.598+119C>T
XM_017015321.2:c.598+119C>T	XP_016870810.1:n.598+119C>T
XM_017015323.2:c.196+119C>T	XP_016870812.1:n.196+119C>T
XM_024447716.1:c.871+119C>T	XP_024303484.1:n.871+119C>T
XM_024447717.1:c.871+119C>T	XP_024303485.1:n.871+119C>T
XR_002956828.1:n.886+119C>T
XR_002956829.1:n.886+119C>T
XR_002956830.1:n.657+119C>T
XR_002956831.1:n.332+119C>T
XR_002956832.1:n.1017+119C>T
NM_012203.2:c.598+119C>T MANE Select	NP_036335.1:n.598+119C>T