Canonical Allele Identifier: CA379280093

Gene: HBG1 HBG2

Linked Data

• gnomAD v4: 11-5249513-C-T
• MyVariant Identifiers: chr11:g.5270743C>T (hg19) ; chr11:g.5249513C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249513C>T , CM000673.2:g.5249513C>T	GRCh38
NC_000011.9:g.5270743C>T , CM000673.1:g.5270743C>T	GRCh37
NC_000011.8:g.5227319C>T	NCBI36
NG_000007.3:g.48103G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.170G>A (HBG1) MANE Select	ENSP00000327431.4:p.Gly57Asp
ENST00000642908.1:c.316-1026G>A	ENSP00000495346.1:n.316-1026G>A
ENST00000647543.1:c.379-1026G>A	ENSP00000496470.1:n.379-1026G>A
ENST00000648735.1:n.221G>A (HBG1)
ENST00000330597.3:c.170G>A (HBG1)	ENSP00000327431.3:p.Gly57Asp
ENST00000620888.4:c.316-1026G>A (HBG2)	ENSP00000479637.1:n.316-1026G>A
ENST00000623781.1:c.185C>T	ENSP00000485381.1:p.Ala62Val
ENST00000632727.1:c.*39G>A (HBG1)	ENSP00000488759.1:n.*39G>A
NM_000559.2:c.170G>A (HBG1)	NP_000550.2:p.Gly57Asp
NM_000559.3:c.170G>A (HBG1) MANE Select	NP_000550.2:p.Gly57Asp