Canonical Allele Identifier: CA379280193

Gene: HBG1 HBG2

Linked Data

• MyVariant Identifiers: chr11:g.5270778G>C (hg19) ; chr11:g.5249548G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249548G>C , CM000673.2:g.5249548G>C	GRCh38
NC_000011.9:g.5270778G>C , CM000673.1:g.5270778G>C	GRCh37
NC_000011.8:g.5227354G>C	NCBI36
NG_000007.3:g.48068C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.135C>G (HBG1) MANE Select	ENSP00000327431.4:p.Ser45Arg
ENST00000642908.1:c.316-1061C>G	ENSP00000495346.1:n.316-1061C>G
ENST00000647543.1:c.379-1061C>G	ENSP00000496470.1:n.379-1061C>G
ENST00000648735.1:n.186C>G (HBG1)
ENST00000330597.3:c.135C>G (HBG1)	ENSP00000327431.3:p.Ser45Arg
ENST00000620888.4:c.316-1061C>G (HBG2)	ENSP00000479637.1:n.316-1061C>G
ENST00000623781.1:c.220G>C	ENSP00000485381.1:p.Ala74Pro
ENST00000632727.1:c.*4C>G (HBG1)	ENSP00000488759.1:n.*4C>G
NM_000559.2:c.135C>G (HBG1)	NP_000550.2:p.Ser45Arg
NM_000559.3:c.135C>G (HBG1) MANE Select	NP_000550.2:p.Ser45Arg