Canonical Allele Identifier: CA5059092

Gene: GRHPR

Linked Data

• dbSNP Id: rs766613829
• ExAC: 9:37428714 G / A
• gnomAD v2: 9-37428714-G-A
• gnomAD v3: 9-37428717-G-A
• gnomAD v4: 9-37428717-G-A
• MyVariant Identifiers: chr9:g.37428714G>A (hg19) ; chr9:g.37428717G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428717G>A , CM000671.2:g.37428717G>A	GRCh38
NC_000009.11:g.37428714G>A , CM000671.1:g.37428714G>A	GRCh37
NC_000009.10:g.37418714G>A	NCBI36
NG_008135.1:g.11008G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.493+145G>A MANE Select	ENSP00000313432.6:n.493+145G>A
ENST00000318158.10:c.493+145G>A	ENSP00000313432.6:n.493+145G>A
ENST00000377824.8:n.530+145G>A
ENST00000460882.5:n.520+145G>A
ENST00000480596.5:n.180G>A
ENST00000491488.5:n.198+145G>A
ENST00000493368.5:n.695G>A
ENST00000497693.1:n.1012G>A
ENST00000607784.1:c.493+145G>A	ENSP00000475569.1:n.493+145G>A
NM_012203.1:c.493+145G>A	NP_036335.1:n.493+145G>A
XM_005251631.1:c.172+145G>A	XP_005251688.1:n.172+145G>A
XM_011518073.1:c.-125G>A	XP_011516375.1:n.-125G>A
XR_929374.1:n.723G>A
XM_017015320.2:c.493+145G>A	XP_016870809.1:n.493+145G>A
XM_017015321.2:c.493+145G>A	XP_016870810.1:n.493+145G>A
XM_017015323.2:c.-125G>A	XP_016870812.1:n.-125G>A
XM_024447716.1:c.766+145G>A	XP_024303484.1:n.766+145G>A
XM_024447717.1:c.766+145G>A	XP_024303485.1:n.766+145G>A
XR_002956828.1:n.781+145G>A
XR_002956829.1:n.781+145G>A
XR_002956830.1:n.552+145G>A
XR_002956831.1:n.227+145G>A
XR_002956832.1:n.697G>A
NM_012203.2:c.493+145G>A MANE Select	NP_036335.1:n.493+145G>A