Canonical Allele Identifier: CA472886058

Gene: HBG1 HBG2

Linked Data

• gnomAD v4: 11-5249313-G-T
• MyVariant Identifiers: chr11:g.5270543G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249313G>T , CM000673.2:g.5249313G>T	GRCh38
NC_000011.9:g.5270543G>T , CM000673.1:g.5270543G>T	GRCh37
NC_000011.8:g.5227119G>T	NCBI36
NG_000007.3:g.48303C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000330597.5:c.315+55C>A (HBG1) MANE Select	ENSP00000327431.4:n.315+55C>A
ENST00000642908.1:c.316-826C>A	ENSP00000495346.1:n.316-826C>A
ENST00000647543.1:c.379-826C>A	ENSP00000496470.1:n.379-826C>A
ENST00000648735.1:n.421C>A (HBG1)
ENST00000330597.3:c.315+55C>A (HBG1)	ENSP00000327431.3:n.315+55C>A
ENST00000620888.4:c.316-826C>A (HBG2)	ENSP00000479637.1:n.316-826C>A
ENST00000623781.1:c.43-58G>T	ENSP00000485381.1:n.43-58G>T
ENST00000632727.1:c.*184+55C>A (HBG1)	ENSP00000488759.1:n.*184+55C>A
NM_000559.2:c.315+55C>A (HBG1)	NP_000550.2:n.315+55C>A
NM_000559.3:c.315+55C>A (HBG1) MANE Select	NP_000550.2:n.315+55C>A