Canonical Allele Identifier: CA5059099

Gene: GRHPR

Linked Data

• dbSNP Id: rs753397758
• ExAC: 9:37429617 G / C
• gnomAD v2: 9-37429617-G-C
• gnomAD v4: 9-37429620-G-C
• MyVariant Identifiers: chr9:g.37429617G>C (hg19) ; chr9:g.37429620G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429620G>C , CM000671.2:g.37429620G>C	GRCh38
NC_000009.11:g.37429617G>C , CM000671.1:g.37429617G>C	GRCh37
NC_000009.10:g.37419617G>C	NCBI36
NG_008135.1:g.11911G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.494-112G>C MANE Select	ENSP00000313432.6:n.494-112G>C
ENST00000318158.10:c.494-112G>C	ENSP00000313432.6:n.494-112G>C
ENST00000377824.8:n.531-112G>C
ENST00000460882.5:n.521-112G>C
ENST00000480596.5:n.1083G>C
ENST00000491488.5:n.199-112G>C
ENST00000494290.1:c.-48G>C	ENSP00000432021.1:n.-48G>C
ENST00000497693.1:n.1915G>C
ENST00000607784.1:c.494-112G>C	ENSP00000475569.1:n.494-112G>C
NM_012203.1:c.494-112G>C	NP_036335.1:n.494-112G>C
XM_005251631.1:c.173-112G>C	XP_005251688.1:n.173-112G>C
XM_011518073.1:c.92-112G>C	XP_011516375.1:n.92-112G>C
XR_929374.1:n.939-112G>C
XM_017015320.2:c.494-112G>C	XP_016870809.1:n.494-112G>C
XM_017015321.2:c.494-112G>C	XP_016870810.1:n.494-112G>C
XM_017015323.2:c.92-112G>C	XP_016870812.1:n.92-112G>C
XM_024447716.1:c.767-112G>C	XP_024303484.1:n.767-112G>C
XM_024447717.1:c.767-112G>C	XP_024303485.1:n.767-112G>C
XR_002956828.1:n.782-112G>C
XR_002956829.1:n.782-112G>C
XR_002956830.1:n.553-112G>C
XR_002956831.1:n.228-112G>C
XR_002956832.1:n.913-112G>C
NM_012203.2:c.494-112G>C MANE Select	NP_036335.1:n.494-112G>C