Canonical Allele Identifier: CA037825

Gene: HBB

Linked Data

• ClinVar Variation Id: 446743
• ClinVar RCV Id: RCV000016807
• PubMed: PMID:7860732

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.[5226597C>T;5226794A>T] , CM000673.2:g.[5226597C>T;5226794A>T]	GRCh38
NC_000011.9:g.[5247827C>T;5248024A>T] , CM000673.1:g.[5247827C>T;5248024A>T]	GRCh37
NC_000011.8:g.[5204403C>T;5204600A>T]	NCBI36
NG_000007.3:g.[70822T>A;71019G>A]
NG_059281.1:g.[5278T>A;5475G>A]

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.[98T>A;295G>A]	ENSP00000494175.1:p.[Leu33Gln;Val99Met]
ENST00000335295.4:c.[98T>A;295G>A] MANE Select	ENSP00000333994.3:p.[Leu33Gln;Val99Met]
ENST00000475226.1:n.[30T>A;227G>A]
ENST00000485743.1:n.[149T>A;346G>A]
ENST00000633227.1:c.[82T>A;*111G>A]	ENSP00000488004.1:[p.Trp28Arg;n.*111G>A]
NM_000518.4:c.[98T>A;295G>A]	NP_000509.1:p.[Leu33Gln;Val99Met]
NM_000518.5:c.[98T>A;295G>A] MANE Select	NP_000509.1:p.[Leu33Gln;Val99Met]