Canonical Allele Identifier: CA1949583765

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249571A= , CM000673.2:g.5249571A= GRCh38
NC_000011.9:g.5270801A= , CM000673.1:g.5270801A= GRCh37
NC_000011.8:g.5227377A= NCBI36
NG_000007.3:g.48045T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000330597.5:c.112T= (HBG1) MANE Select ENSP00000327431.4:p.Trp38=
ENST00000642908.1:c.316-1084T= ENSP00000495346.1:n.316-1084T=
ENST00000647543.1:c.379-1084T= ENSP00000496470.1:n.379-1084T=
ENST00000648735.1:n.163T= (HBG1)
ENST00000330597.3:c.112T= (HBG1) ENSP00000327431.3:p.Trp38=
ENST00000620888.4:c.316-1084T= (HBG2) ENSP00000479637.1:n.316-1084T=
ENST00000623781.1:c.243A= ENSP00000485381.1:p.Pro81=
ENST00000632727.1:c.74T= (HBG1) ENSP00000488759.1:p.Met25=
NM_000559.2:c.112T= (HBG1) NP_000550.2:p.Trp38=
NM_000559.3:c.112T= (HBG1) MANE Select NP_000550.2:p.Trp38=