Canonical Allele Identifier: CA1949583319
Gene: HBG1 HGNC NCBI
HBG2 HGNC NCBI

Linked Data

dbSNP Id: rs1847917967
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249141C>T , CM000673.2:g.5249141C>T GRCh38
NC_000011.9:g.5270371C>T , CM000673.1:g.5270371C>T GRCh37
NC_000011.8:g.5226947C>T NCBI36
NG_000007.3:g.48475G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330597.5:c.315+227G>A (HBG1) MANE Select ENSP00000327431.4:n.315+227G>A
ENST00000642908.1:c.316-654G>A ENSP00000495346.1:n.316-654G>A
ENST00000647543.1:c.379-654G>A ENSP00000496470.1:n.379-654G>A
ENST00000648735.1:n.593G>A (HBG1)
ENST00000330597.3:c.315+227G>A (HBG1) ENSP00000327431.3:n.315+227G>A
ENST00000620888.4:c.316-654G>A (HBG2) ENSP00000479637.1:n.316-654G>A
ENST00000623781.1:c.43-230C>T ENSP00000485381.1:n.43-230C>T
ENST00000632727.1:c.*184+227G>A (HBG1) ENSP00000488759.1:n.*184+227G>A
NM_000559.2:c.315+227G>A (HBG1) NP_000550.2:n.315+227G>A
NM_000559.3:c.315+227G>A (HBG1) MANE Select NP_000550.2:n.315+227G>A
Search 100 bp 5'
Search 100 bp 3'