Canonical Allele Identifier: CA5058870

Gene: GRHPR

Linked Data

• dbSNP Id: rs149749351
• ExAC: 9:37422700 C / A
• gnomAD v2: 9-37422700-C-A
• gnomAD v3: 9-37422703-C-A
• gnomAD v4: 9-37422703-C-A
• MyVariant Identifiers: chr9:g.37422700C>A (hg19) ; chr9:g.37422703C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37422703C>A , CM000671.2:g.37422703C>A	GRCh38
NC_000009.11:g.37422700C>A , CM000671.1:g.37422700C>A	GRCh37
NC_000009.10:g.37412700C>A	NCBI36
NG_008135.1:g.4994C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.-48C>A MANE Select	ENSP00000313432.6:n.-48C>A
ENST00000318158.10:c.-48C>A	ENSP00000313432.6:n.-48C>A
ENST00000460882.5:n.8C>A
ENST00000493368.5:n.38C>A
XM_005251631.1:c.-48C>A	XP_005251688.1:n.-48C>A
XR_929374.1:n.38C>A
XM_017015320.2:c.-48C>A	XP_016870809.1:n.-48C>A
XM_017015321.2:c.-48C>A	XP_016870810.1:n.-48C>A
XM_017015323.2:c.-810C>A	XP_016870812.1:n.-810C>A
XM_024447716.1:c.254C>A	XP_024303484.1:p.Pro85Gln
XM_024447717.1:c.254C>A	XP_024303485.1:p.Pro85Gln
XR_002956828.1:n.269C>A
XR_002956829.1:n.269C>A
XR_002956830.1:n.12C>A
XR_002956831.1:n.8C>A
XR_002956832.1:n.12C>A
NM_012203.2:c.-48C>A MANE Select	NP_036335.1:n.-48C>A