Canonical Allele Identifier: CA5840169

Gene: HBG1 HBG2

Linked Data

• dbSNP Id: rs778172072
• ExAC: 11:5270749 A / G
• gnomAD v2: 11-5270749-A-G
• gnomAD v4: 11-5249519-A-G
• MyVariant Identifiers: chr11:g.5270749A>G (hg19) ; chr11:g.5249519A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249519A>G , CM000673.2:g.5249519A>G	GRCh38
NC_000011.9:g.5270749A>G , CM000673.1:g.5270749A>G	GRCh37
NC_000011.8:g.5227325A>G	NCBI36
NG_000007.3:g.48097T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.164T>C (HBG1) MANE Select	ENSP00000327431.4:p.Ile55Thr
ENST00000642908.1:c.316-1032T>C	ENSP00000495346.1:n.316-1032T>C
ENST00000647543.1:c.379-1032T>C	ENSP00000496470.1:n.379-1032T>C
ENST00000648735.1:n.215T>C (HBG1)
ENST00000330597.3:c.164T>C (HBG1)	ENSP00000327431.3:p.Ile55Thr
ENST00000620888.4:c.316-1032T>C (HBG2)	ENSP00000479637.1:n.316-1032T>C
ENST00000623781.1:c.191A>G	ENSP00000485381.1:p.Asp64Gly
ENST00000632727.1:c.*33T>C (HBG1)	ENSP00000488759.1:n.*33T>C
NM_000559.2:c.164T>C (HBG1)	NP_000550.2:p.Ile55Thr
NM_000559.3:c.164T>C (HBG1) MANE Select	NP_000550.2:p.Ile55Thr