Canonical Allele Identifier: CA1949583376
Gene: HBG1 HGNC NCBI
HBG2 HGNC NCBI

Linked Data

dbSNP Id: rs1847918580
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249211C>A , CM000673.2:g.5249211C>A GRCh38
NC_000011.9:g.5270441C>A , CM000673.1:g.5270441C>A GRCh37
NC_000011.8:g.5227017C>A NCBI36
NG_000007.3:g.48405G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000330597.5:c.315+157G>T (HBG1) MANE Select ENSP00000327431.4:n.315+157G>T
ENST00000642908.1:c.316-724G>T ENSP00000495346.1:n.316-724G>T
ENST00000647543.1:c.379-724G>T ENSP00000496470.1:n.379-724G>T
ENST00000648735.1:n.523G>T (HBG1)
ENST00000330597.3:c.315+157G>T (HBG1) ENSP00000327431.3:n.315+157G>T
ENST00000620888.4:c.316-724G>T (HBG2) ENSP00000479637.1:n.316-724G>T
ENST00000623781.1:c.43-160C>A ENSP00000485381.1:n.43-160C>A
ENST00000632727.1:c.*184+157G>T (HBG1) ENSP00000488759.1:n.*184+157G>T
NM_000559.2:c.315+157G>T (HBG1) NP_000550.2:n.315+157G>T
NM_000559.3:c.315+157G>T (HBG1) MANE Select NP_000550.2:n.315+157G>T
Search 100 bp 5'
Search 100 bp 3'