Canonical Allele Identifier: CA217115694

Gene: HBB

Linked Data

• dbSNP Id: rs1010004981
• gnomAD v4: 11-5227044-T-A
• MyVariant Identifiers: chr11:g.5248274T>A (hg19) ; chr11:g.5227044T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227044T>A , CM000673.2:g.5227044T>A	GRCh38
NC_000011.9:g.5248274T>A , CM000673.1:g.5248274T>A	GRCh37
NC_000011.8:g.5204850T>A	NCBI36
NG_000007.3:g.70572A>T
NG_059281.1:g.5028A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.-23A>T	ENSP00000494175.1:n.-23A>T
ENST00000335295.4:c.-23A>T MANE Select	ENSP00000333994.3:n.-23A>T
ENST00000380315.2:c.-18-5A>T	ENSP00000369671.2:n.-18-5A>T
ENST00000485743.1:n.29A>T
ENST00000633227.1:c.-23A>T	ENSP00000488004.1:n.-23A>T
NM_000518.4:c.-23A>T	NP_000509.1:n.-23A>T
NM_000518.5:c.-23A>T MANE Select	NP_000509.1:n.-23A>T