Canonical Allele Identifier: CA379274878
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs63751285
gnomAD v2: 11-5248203-C-T
gnomAD v3: 11-5226973-C-T
gnomAD v4: 11-5226973-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226973C>T , CM000673.2:g.5226973C>T GRCh38
NC_000011.9:g.5248203C>T , CM000673.1:g.5248203C>T GRCh37
NC_000011.8:g.5204779C>T NCBI36
NG_000007.3:g.70643G>A
NG_059281.1:g.5099G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.49G>A ENSP00000494175.1:p.Gly17Ser
ENST00000335295.4:c.49G>A MANE Select ENSP00000333994.3:p.Gly17Ser
ENST00000380315.2:c.49G>A ENSP00000369671.2:p.Gly17Ser
ENST00000485743.1:n.100G>A
ENST00000633227.1:c.49G>A ENSP00000488004.1:p.Gly17Ser
NM_000518.4:c.49G>A NP_000509.1:p.Gly17Ser
NM_000518.5:c.49G>A MANE Select NP_000509.1:p.Gly17Ser