Canonical Allele Identifier: CA587804359

Gene: GRHPR

Linked Data

• dbSNP Id: rs1171183974
• gnomAD v2: 9-37429627-G-C
• gnomAD v3: 9-37429630-G-C
• gnomAD v4: 9-37429630-G-C
• MyVariant Identifiers: chr9:g.37429627G>C (hg19) ; chr9:g.37429630G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429630G>C , CM000671.2:g.37429630G>C	GRCh38
NC_000009.11:g.37429627G>C , CM000671.1:g.37429627G>C	GRCh37
NC_000009.10:g.37419627G>C	NCBI36
NG_008135.1:g.11921G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.494-102G>C MANE Select	ENSP00000313432.6:n.494-102G>C
ENST00000318158.10:c.494-102G>C	ENSP00000313432.6:n.494-102G>C
ENST00000377824.8:n.531-102G>C
ENST00000460882.5:n.521-102G>C
ENST00000480596.5:n.1093G>C
ENST00000491488.5:n.199-102G>C
ENST00000494290.1:c.-38G>C	ENSP00000432021.1:n.-38G>C
ENST00000497693.1:n.1925G>C
ENST00000607784.1:c.494-102G>C	ENSP00000475569.1:n.494-102G>C
NM_012203.1:c.494-102G>C	NP_036335.1:n.494-102G>C
XM_005251631.1:c.173-102G>C	XP_005251688.1:n.173-102G>C
XM_011518073.1:c.92-102G>C	XP_011516375.1:n.92-102G>C
XR_929374.1:n.939-102G>C
XM_017015320.2:c.494-102G>C	XP_016870809.1:n.494-102G>C
XM_017015321.2:c.494-102G>C	XP_016870810.1:n.494-102G>C
XM_017015323.2:c.92-102G>C	XP_016870812.1:n.92-102G>C
XM_024447716.1:c.767-102G>C	XP_024303484.1:n.767-102G>C
XM_024447717.1:c.767-102G>C	XP_024303485.1:n.767-102G>C
XR_002956828.1:n.782-102G>C
XR_002956829.1:n.782-102G>C
XR_002956830.1:n.553-102G>C
XR_002956831.1:n.228-102G>C
XR_002956832.1:n.913-102G>C
NM_012203.2:c.494-102G>C MANE Select	NP_036335.1:n.494-102G>C