Canonical Allele Identifier: CA379279963

Gene: HBG1 HBG2

Linked Data

• MyVariant Identifiers: chr11:g.5270698A>T (hg19) ; chr11:g.5249468A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249468A>T , CM000673.2:g.5249468A>T	GRCh38
NC_000011.9:g.5270698A>T , CM000673.1:g.5270698A>T	GRCh37
NC_000011.8:g.5227274A>T	NCBI36
NG_000007.3:g.48148T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000330597.5:c.215T>A (HBG1) MANE Select	ENSP00000327431.4:p.Leu72Ter
ENST00000642908.1:c.316-981T>A	ENSP00000495346.1:n.316-981T>A
ENST00000647543.1:c.379-981T>A	ENSP00000496470.1:n.379-981T>A
ENST00000648735.1:n.266T>A (HBG1)
ENST00000330597.3:c.215T>A (HBG1)	ENSP00000327431.3:p.Leu72Ter
ENST00000620888.4:c.316-981T>A (HBG2)	ENSP00000479637.1:n.316-981T>A
ENST00000623781.1:c.140A>T	ENSP00000485381.1:p.Gln47Leu
ENST00000632727.1:c.*84T>A (HBG1)	ENSP00000488759.1:n.*84T>A
NM_000559.2:c.215T>A (HBG1)	NP_000550.2:p.Leu72Ter
NM_000559.3:c.215T>A (HBG1) MANE Select	NP_000550.2:p.Leu72Ter