Canonical Allele Identifier: CA379273695
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs1181594379
gnomAD v2: 11-5246895-G-A
gnomAD v4: 11-5225665-G-A
MyVariant Identifiers: chr11:g.5246895G>A (hg19) chr11:g.5225665G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225665G>A , CM000673.2:g.5225665G>A GRCh38
NC_000011.9:g.5246895G>A , CM000673.1:g.5246895G>A GRCh37
NC_000011.8:g.5203471G>A NCBI36
NG_000007.3:g.71951C>T
NG_059281.1:g.6407C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.377C>T ENSP00000494175.1:p.Pro126Leu
ENST00000335295.4:c.377C>T MANE Select ENSP00000333994.3:p.Pro126Leu
ENST00000475226.1:n.309C>T
ENST00000633227.1:c.*193C>T ENSP00000488004.1:n.*193C>T
NM_000518.4:c.377C>T NP_000509.1:p.Pro126Leu
NM_000518.5:c.377C>T MANE Select NP_000509.1:p.Pro126Leu
Search 100 bp 5'
Search 100 bp 3'