Canonical Allele Identifier: CA2612150165

Gene: HBG1 HBG2

Linked Data

• gnomAD v4: 11-5249284-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249284C>A , CM000673.2:g.5249284C>A	GRCh38
NC_000011.9:g.5270514C>A , CM000673.1:g.5270514C>A	GRCh37
NC_000011.8:g.5227090C>A	NCBI36
NG_000007.3:g.48332G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.315+84G>T (HBG1) MANE Select	ENSP00000327431.4:n.315+84G>T
ENST00000642908.1:c.316-797G>T	ENSP00000495346.1:n.316-797G>T
ENST00000647543.1:c.379-797G>T	ENSP00000496470.1:n.379-797G>T
ENST00000648735.1:n.450G>T (HBG1)
ENST00000330597.3:c.315+84G>T (HBG1)	ENSP00000327431.3:n.315+84G>T
ENST00000620888.4:c.316-797G>T (HBG2)	ENSP00000479637.1:n.316-797G>T
ENST00000623781.1:c.43-87C>A	ENSP00000485381.1:n.43-87C>A
ENST00000632727.1:c.*184+84G>T (HBG1)	ENSP00000488759.1:n.*184+84G>T
NM_000559.2:c.315+84G>T (HBG1)	NP_000550.2:n.315+84G>T
NM_000559.3:c.315+84G>T (HBG1) MANE Select	NP_000550.2:n.315+84G>T