Canonical Allele Identifier: CA192887742

Gene: GRHPR

Linked Data

• dbSNP Id: rs752931593
• gnomAD v2: 9-37425853-G-C
• gnomAD v3: 9-37425856-G-C
• gnomAD v4: 9-37425856-G-C
• MyVariant Identifiers: chr9:g.37425853G>C (hg19) ; chr9:g.37425856G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37425856G>C , CM000671.2:g.37425856G>C	GRCh38
NC_000009.11:g.37425853G>C , CM000671.1:g.37425853G>C	GRCh37
NC_000009.10:g.37415853G>C	NCBI36
NG_008135.1:g.8147G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.215-66G>C MANE Select	ENSP00000313432.6:n.215-66G>C
ENST00000318158.10:c.215-66G>C	ENSP00000313432.6:n.215-66G>C
ENST00000377824.8:n.252-66G>C
ENST00000460882.5:n.242-66G>C
ENST00000487399.5:n.224-66G>C
ENST00000491488.5:n.110-2628G>C
ENST00000493368.5:n.272-66G>C
ENST00000607784.1:c.215-66G>C	ENSP00000475569.1:n.215-66G>C
NM_012203.1:c.215-66G>C	NP_036335.1:n.215-66G>C
XM_005251631.1:c.84-2628G>C	XP_005251688.1:n.84-2628G>C
XM_011518073.1:c.-548-66G>C	XP_011516375.1:n.-548-66G>C
XR_929374.1:n.300-66G>C
XM_017015320.2:c.215-66G>C	XP_016870809.1:n.215-66G>C
XM_017015321.2:c.215-66G>C	XP_016870810.1:n.215-66G>C
XM_017015323.2:c.-548-66G>C	XP_016870812.1:n.-548-66G>C
XM_024447716.1:c.488-66G>C	XP_024303484.1:n.488-66G>C
XM_024447717.1:c.488-66G>C	XP_024303485.1:n.488-66G>C
XR_002956828.1:n.503-66G>C
XR_002956829.1:n.503-66G>C
XR_002956830.1:n.274-66G>C
XR_002956831.1:n.139-2628G>C
XR_002956832.1:n.274-66G>C
NM_012203.2:c.215-66G>C MANE Select	NP_036335.1:n.215-66G>C