Canonical Allele Identifier: CA217113514

Gene: HBB

Linked Data

• dbSNP Id: rs33933298
• MyVariant Identifiers: chr11:g.5247827C>A (hg19) ; chr11:g.5226597C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226597C>A , CM000673.2:g.5226597C>A	GRCh38
NC_000011.9:g.5247827C>A , CM000673.1:g.5247827C>A	GRCh37
NC_000011.8:g.5204403C>A	NCBI36
NG_000007.3:g.71019G>T
NG_059281.1:g.5475G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.295G>T	ENSP00000494175.1:p.Val99Leu
ENST00000335295.4:c.295G>T MANE Select	ENSP00000333994.3:p.Val99Leu
ENST00000475226.1:n.227G>T
ENST00000485743.1:n.346G>T
ENST00000633227.1:c.*111G>T	ENSP00000488004.1:n.*111G>T
NM_000518.4:c.295G>T	NP_000509.1:p.Val99Leu
NM_000518.5:c.295G>T MANE Select	NP_000509.1:p.Val99Leu