Canonical Allele Identifier: CA2612150233

Gene: HBG1 HBG2

Linked Data

• gnomAD v4: 11-5249318-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249318A>G , CM000673.2:g.5249318A>G	GRCh38
NC_000011.9:g.5270548A>G , CM000673.1:g.5270548A>G	GRCh37
NC_000011.8:g.5227124A>G	NCBI36
NG_000007.3:g.48298T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000330597.5:c.315+50T>C (HBG1) MANE Select	ENSP00000327431.4:n.315+50T>C
ENST00000642908.1:c.316-831T>C	ENSP00000495346.1:n.316-831T>C
ENST00000647543.1:c.379-831T>C	ENSP00000496470.1:n.379-831T>C
ENST00000648735.1:n.416T>C (HBG1)
ENST00000330597.3:c.315+50T>C (HBG1)	ENSP00000327431.3:n.315+50T>C
ENST00000620888.4:c.316-831T>C (HBG2)	ENSP00000479637.1:n.316-831T>C
ENST00000623781.1:c.43-53A>G	ENSP00000485381.1:n.43-53A>G
ENST00000632727.1:c.*184+50T>C (HBG1)	ENSP00000488759.1:n.*184+50T>C
NM_000559.2:c.315+50T>C (HBG1)	NP_000550.2:n.315+50T>C
NM_000559.3:c.315+50T>C (HBG1) MANE Select	NP_000550.2:n.315+50T>C