Canonical Allele Identifier: CA2579340807

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37436860-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436860C>A , CM000671.2:g.37436860C>A	GRCh38
NC_000009.11:g.37436857C>A , CM000671.1:g.37436857C>A	GRCh37
NC_000009.10:g.37426857C>A	NCBI36
NG_008135.1:g.19151C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.*78C>A MANE Select	ENSP00000313432.6:n.*78C>A
ENST00000318158.10:c.*78C>A	ENSP00000313432.6:n.*78C>A
ENST00000480596.5:n.1766C>A
ENST00000494290.1:c.*52-21C>A	ENSP00000432021.1:n.*52-21C>A
ENST00000497693.1:n.4633C>A
NM_012203.1:c.*78C>A	NP_036335.1:n.*78C>A
XM_005251631.1:c.*78C>A	XP_005251688.1:n.*78C>A
XM_011518073.1:c.*78C>A	XP_011516375.1:n.*78C>A
XM_017015320.2:c.946-551C>A	XP_016870809.1:n.946-551C>A
XM_017015321.2:c.866-551C>A	XP_016870810.1:n.866-551C>A
XM_017015323.2:c.544-551C>A	XP_016870812.1:n.544-551C>A
XM_024447716.1:c.1219-551C>A	XP_024303484.1:n.1219-551C>A
XM_024447717.1:c.1139-551C>A	XP_024303485.1:n.1139-551C>A
XR_002956828.1:n.1234-551C>A
XR_002956829.1:n.1154-551C>A
XR_002956830.1:n.2485C>A
XR_002956831.1:n.2160C>A
XR_002956832.1:n.1484C>A
NM_012203.2:c.*78C>A MANE Select	NP_036335.1:n.*78C>A