Canonical Allele Identifier: CA379280350

Gene: HBG1 HBG2

Linked Data

• MyVariant Identifiers: chr11:g.5270948C>G (hg19) ; chr11:g.5249718C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249718C>G , CM000673.2:g.5249718C>G	GRCh38
NC_000011.9:g.5270948C>G , CM000673.1:g.5270948C>G	GRCh37
NC_000011.8:g.5227524C>G	NCBI36
NG_000007.3:g.47898G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.87G>C (HBG1) MANE Select	ENSP00000327431.4:p.Leu29=
ENST00000642908.1:c.316-1231G>C	ENSP00000495346.1:n.316-1231G>C
ENST00000647543.1:c.379-1231G>C	ENSP00000496470.1:n.379-1231G>C
ENST00000648735.1:n.138G>C (HBG1)
ENST00000330597.3:c.87G>C (HBG1)	ENSP00000327431.3:p.Leu29=
ENST00000620888.4:c.316-1231G>C (HBG2)	ENSP00000479637.1:n.316-1231G>C
ENST00000623781.1:c.271C>G	ENSP00000485381.1:p.Gln91Glu
ENST00000632727.1:c.54+33G>C (HBG1)	ENSP00000488759.1:n.54+33G>C
NM_000559.2:c.87G>C (HBG1)	NP_000550.2:p.Leu29=
NM_000559.3:c.87G>C (HBG1) MANE Select	NP_000550.2:p.Leu29=