Canonical Allele Identifier: CA379280207

Gene: HBG1 HBG2

Linked Data

• gnomAD v4: 11-5249553-C-A
• MyVariant Identifiers: chr11:g.5270783C>A (hg19) ; chr11:g.5249553C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249553C>A , CM000673.2:g.5249553C>A	GRCh38
NC_000011.9:g.5270783C>A , CM000673.1:g.5270783C>A	GRCh37
NC_000011.8:g.5227359C>A	NCBI36
NG_000007.3:g.48063G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.130G>T (HBG1) MANE Select	ENSP00000327431.4:p.Asp44Tyr
ENST00000642908.1:c.316-1066G>T	ENSP00000495346.1:n.316-1066G>T
ENST00000647543.1:c.379-1066G>T	ENSP00000496470.1:n.379-1066G>T
ENST00000648735.1:n.181G>T (HBG1)
ENST00000330597.3:c.130G>T (HBG1)	ENSP00000327431.3:p.Asp44Tyr
ENST00000620888.4:c.316-1066G>T (HBG2)	ENSP00000479637.1:n.316-1066G>T
ENST00000623781.1:c.225C>A	ENSP00000485381.1:p.Val75=
ENST00000632727.1:c.92G>T (HBG1)	ENSP00000488759.1:p.Ter31Leu
NM_000559.2:c.130G>T (HBG1)	NP_000550.2:p.Asp44Tyr
NM_000559.3:c.130G>T (HBG1) MANE Select	NP_000550.2:p.Asp44Tyr