Canonical Allele Identifier: CA355739503

Gene: HRG HRG-AS1

Linked Data

• dbSNP Id: rs9898
• gnomAD v4: 3-186672838-C-A
• MyVariant Identifiers: chr3:g.186390627C>A (hg19) ; chr3:g.186672838C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186672838C>A , CM000665.2:g.186672838C>A	GRCh38
NC_000003.11:g.186390627C>A , CM000665.1:g.186390627C>A	GRCh37
NC_000003.10:g.187873321C>A	NCBI36
NG_021485.2:g.17623C>A , LRG_601:g.17623C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000232003.5:c.610C>A (HRG) MANE Select	ENSP00000232003.4:p.Pro204Thr
ENST00000232003.4:c.610C>A (HRG)	ENSP00000232003.4:p.Pro204Thr
ENST00000495413.1:n.735C>A (HRG)
NM_000412.3:c.610C>A (HRG)	NP_000403.1:p.Pro204Thr
NM_000412.4:c.610C>A , LRG_601t1:c.610C>A (HRG)	NP_000403.1:p.Pro204Thr
XM_005247415.3:c.610C>A (HRG)	XP_005247472.1:p.Pro204Thr
XR_924801.1:n.290-20967G>T (HRG-AS1)
XM_005247415.4:c.610C>A (HRG)	XP_005247472.1:p.Pro204Thr
XR_001741059.1:n.291-20967G>T (HRG-AS1)
XR_924801.2:n.291-20967G>T (HRG-AS1)
NM_000412.5:c.610C>A (HRG) MANE Select	NP_000403.1:p.Pro204Thr