Canonical Allele Identifier: CA379279942

Gene: HBG1 HBG2

Linked Data

• gnomAD v4: 11-5249460-C-A
• MyVariant Identifiers: chr11:g.5270690C>A (hg19) ; chr11:g.5249460C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249460C>A , CM000673.2:g.5249460C>A	GRCh38
NC_000011.9:g.5270690C>A , CM000673.1:g.5270690C>A	GRCh37
NC_000011.8:g.5227266C>A	NCBI36
NG_000007.3:g.48156G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.223G>T (HBG1) MANE Select	ENSP00000327431.4:p.Ala75Ser
ENST00000642908.1:c.316-973G>T	ENSP00000495346.1:n.316-973G>T
ENST00000647543.1:c.379-973G>T	ENSP00000496470.1:n.379-973G>T
ENST00000648735.1:n.274G>T (HBG1)
ENST00000330597.3:c.223G>T (HBG1)	ENSP00000327431.3:p.Ala75Ser
ENST00000620888.4:c.316-973G>T (HBG2)	ENSP00000479637.1:n.316-973G>T
ENST00000623781.1:c.132C>A	ENSP00000485381.1:p.Gly44=
ENST00000632727.1:c.*92G>T (HBG1)	ENSP00000488759.1:n.*92G>T
NM_000559.2:c.223G>T (HBG1)	NP_000550.2:p.Ala75Ser
NM_000559.3:c.223G>T (HBG1) MANE Select	NP_000550.2:p.Ala75Ser