Canonical Allele Identifier: CA379273891

Gene: HBB

Linked Data

• ClinVar Variation Id: 2681980
• ClinVar RCV Id: RCV003477272
• MyVariant Identifiers: chr11:g.5247937T>G (hg19) ; chr11:g.5226707T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226707T>G , CM000673.2:g.5226707T>G	GRCh38
NC_000011.9:g.5247937T>G , CM000673.1:g.5247937T>G	GRCh37
NC_000011.8:g.5204513T>G	NCBI36
NG_000007.3:g.70909A>C
NG_059281.1:g.5365A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.185A>C	ENSP00000494175.1:p.Lys62Thr
ENST00000335295.4:c.185A>C MANE Select	ENSP00000333994.3:p.Lys62Thr
ENST00000380315.2:c.185A>C	ENSP00000369671.2:p.Lys62Thr
ENST00000475226.1:n.117A>C
ENST00000485743.1:n.236A>C
ENST00000633227.1:c.*1A>C	ENSP00000488004.1:n.*1A>C
NM_000518.4:c.185A>C	NP_000509.1:p.Lys62Thr
NM_000518.5:c.185A>C MANE Select	NP_000509.1:p.Lys62Thr