Canonical Allele Identifier: CA2612150811

Gene: HBG1 HBG2

Linked Data

• gnomAD v4: 11-5249659-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249659T>C , CM000673.2:g.5249659T>C	GRCh38
NC_000011.9:g.5270889T>C , CM000673.1:g.5270889T>C	GRCh37
NC_000011.8:g.5227465T>C	NCBI36
NG_000007.3:g.47957A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.92+54A>G (HBG1) MANE Select	ENSP00000327431.4:n.92+54A>G
ENST00000642908.1:c.316-1172A>G	ENSP00000495346.1:n.316-1172A>G
ENST00000647543.1:c.379-1172A>G	ENSP00000496470.1:n.379-1172A>G
ENST00000648735.1:n.143+54A>G (HBG1)
ENST00000330597.3:c.92+54A>G (HBG1)	ENSP00000327431.3:n.92+54A>G
ENST00000620888.4:c.316-1172A>G (HBG2)	ENSP00000479637.1:n.316-1172A>G
ENST00000623781.1:c.265-53T>C	ENSP00000485381.1:n.265-53T>C
ENST00000632727.1:c.55-69A>G (HBG1)	ENSP00000488759.1:n.55-69A>G
NM_000559.2:c.92+54A>G (HBG1)	NP_000550.2:n.92+54A>G
NM_000559.3:c.92+54A>G (HBG1) MANE Select	NP_000550.2:n.92+54A>G