Canonical Allele Identifier: CA597436138
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs375739101
gnomAD v2: 11-5248135-C-T
gnomAD v3: 11-5226905-C-T
gnomAD v4: 11-5226905-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226905C>T , CM000673.2:g.5226905C>T GRCh38
NC_000011.9:g.5248135C>T , CM000673.1:g.5248135C>T GRCh37
NC_000011.8:g.5204711C>T NCBI36
NG_000007.3:g.70711G>A
NG_059281.1:g.5167G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.92+25G>A ENSP00000494175.1:n.92+25G>A
ENST00000335295.4:c.92+25G>A MANE Select ENSP00000333994.3:n.92+25G>A
ENST00000380315.2:c.92+25G>A ENSP00000369671.2:n.92+25G>A
ENST00000485743.1:n.143+25G>A
ENST00000633227.1:c.76+41G>A ENSP00000488004.1:n.76+41G>A
NM_000518.4:c.92+25G>A NP_000509.1:n.92+25G>A
NM_000518.5:c.92+25G>A MANE Select NP_000509.1:n.92+25G>A