Canonical Allele Identifier: CA379280189

Gene: HBG1 HBG2

Linked Data

• MyVariant Identifiers: chr11:g.5270777A>T (hg19) ; chr11:g.5249547A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249547A>T , CM000673.2:g.5249547A>T	GRCh38
NC_000011.9:g.5270777A>T , CM000673.1:g.5270777A>T	GRCh37
NC_000011.8:g.5227353A>T	NCBI36
NG_000007.3:g.48069T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.136T>A (HBG1) MANE Select	ENSP00000327431.4:p.Phe46Ile
ENST00000642908.1:c.316-1060T>A	ENSP00000495346.1:n.316-1060T>A
ENST00000647543.1:c.379-1060T>A	ENSP00000496470.1:n.379-1060T>A
ENST00000648735.1:n.187T>A (HBG1)
ENST00000330597.3:c.136T>A (HBG1)	ENSP00000327431.3:p.Phe46Ile
ENST00000620888.4:c.316-1060T>A (HBG2)	ENSP00000479637.1:n.316-1060T>A
ENST00000623781.1:c.219A>T	ENSP00000485381.1:p.Lys73Asn
ENST00000632727.1:c.*5T>A (HBG1)	ENSP00000488759.1:n.*5T>A
NM_000559.2:c.136T>A (HBG1)	NP_000550.2:p.Phe46Ile
NM_000559.3:c.136T>A (HBG1) MANE Select	NP_000550.2:p.Phe46Ile