Canonical Allele Identifier: CA035937

Gene: HBG1 HBG2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.[5248393G>C;5249456G>A] , CM000673.2:g.[5248393G>C;5249456G>A]	GRCh38
NC_000011.9:g.[5269623G>C;5270686G>A] , CM000673.1:g.[5269623G>C;5270686G>A]	GRCh37
NC_000011.8:g.[5226199G>C;5227262G>A]	NCBI36
NG_000007.3:g.[48160C>T;49223C>G]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.[227C>T;410C>G] (HBG1) MANE Select	ENSP00000327431.4:p.[Thr76Ile;Ala137Gly]
ENST00000642908.1:c.[316-969C>T;410C>G]	ENSP00000495346.1:p.Ala137Gly
ENST00000647543.1:c.[379-969C>T;473C>G]	ENSP00000496470.1:p.Ala158Gly
ENST00000648735.1:n.[278C>T;1341C>G] (HBG1)
ENST00000330597.3:c.[227C>T;410C>G] (HBG1)	ENSP00000327431.3:p.[Thr76Ile;Ala137Gly]
ENST00000620888.4:c.[316-969C>T;410C>G] (HBG2)	ENSP00000479637.1:p.Ala137Gly
NM_000559.2:c.[227C>T;410C>G] (HBG1)	NP_000550.2:p.[Thr76Ile;Ala137Gly]
NM_000559.3:c.[227C>T;410C>G] (HBG1) MANE Select	NP_000550.2:p.[Thr76Ile;Ala137Gly]