Canonical Allele Identifier: CA2612150170
Gene: HBG1 HGNC NCBI
HBG2 HGNC NCBI

Linked Data

gnomAD v4: 11-5249286-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249286C>A , CM000673.2:g.5249286C>A GRCh38
NC_000011.9:g.5270516C>A , CM000673.1:g.5270516C>A GRCh37
NC_000011.8:g.5227092C>A NCBI36
NG_000007.3:g.48330G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330597.5:c.315+82G>T (HBG1) MANE Select ENSP00000327431.4:n.315+82G>T
ENST00000642908.1:c.316-799G>T ENSP00000495346.1:n.316-799G>T
ENST00000647543.1:c.379-799G>T ENSP00000496470.1:n.379-799G>T
ENST00000648735.1:n.448G>T (HBG1)
ENST00000330597.3:c.315+82G>T (HBG1) ENSP00000327431.3:n.315+82G>T
ENST00000620888.4:c.316-799G>T (HBG2) ENSP00000479637.1:n.316-799G>T
ENST00000623781.1:c.43-85C>A ENSP00000485381.1:n.43-85C>A
ENST00000632727.1:c.*184+82G>T (HBG1) ENSP00000488759.1:n.*184+82G>T
NM_000559.2:c.315+82G>T (HBG1) NP_000550.2:n.315+82G>T
NM_000559.3:c.315+82G>T (HBG1) MANE Select NP_000550.2:n.315+82G>T
Search 100 bp 5'
Search 100 bp 3'