Canonical Allele Identifier: CA2612150194
Gene: HBG1 HGNC NCBI
HBG2 HGNC NCBI

Linked Data

gnomAD v4: 11-5249301-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249301C>G , CM000673.2:g.5249301C>G GRCh38
NC_000011.9:g.5270531C>G , CM000673.1:g.5270531C>G GRCh37
NC_000011.8:g.5227107C>G NCBI36
NG_000007.3:g.48315G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000330597.5:c.315+67G>C (HBG1) MANE Select ENSP00000327431.4:n.315+67G>C
ENST00000642908.1:c.316-814G>C ENSP00000495346.1:n.316-814G>C
ENST00000647543.1:c.379-814G>C ENSP00000496470.1:n.379-814G>C
ENST00000648735.1:n.433G>C (HBG1)
ENST00000330597.3:c.315+67G>C (HBG1) ENSP00000327431.3:n.315+67G>C
ENST00000620888.4:c.316-814G>C (HBG2) ENSP00000479637.1:n.316-814G>C
ENST00000623781.1:c.43-70C>G ENSP00000485381.1:n.43-70C>G
ENST00000632727.1:c.*184+67G>C (HBG1) ENSP00000488759.1:n.*184+67G>C
NM_000559.2:c.315+67G>C (HBG1) NP_000550.2:n.315+67G>C
NM_000559.3:c.315+67G>C (HBG1) MANE Select NP_000550.2:n.315+67G>C
Search 100 bp 5'
Search 100 bp 3'