Canonical Allele Identifier: CA124582

Linked Data

ClinVar Variation Id: 15007
ClinVar RCV Id: RCV000016147
dbSNP Id: rs35746147
gnomAD v4: 11-5249522-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249522G>T , CM000673.2:g.5249522G>T GRCh38
NC_000011.9:g.5270752G>T , CM000673.1:g.5270752G>T GRCh37
NC_000011.8:g.5227328G>T NCBI36
NG_000007.3:g.48094C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330597.5:c.161C>A (HBG1) MANE Select ENSP00000327431.4:p.Ala54Asp
ENST00000642908.1:c.316-1035C>A ENSP00000495346.1:n.316-1035C>A
ENST00000647543.1:c.379-1035C>A ENSP00000496470.1:n.379-1035C>A
ENST00000648735.1:n.212C>A (HBG1)
ENST00000330597.3:c.161C>A (HBG1) ENSP00000327431.3:p.Ala54Asp
ENST00000620888.4:c.316-1035C>A (HBG2) ENSP00000479637.1:n.316-1035C>A
ENST00000623781.1:c.194G>T ENSP00000485381.1:p.Gly65Val
ENST00000632727.1:c.*30C>A (HBG1) ENSP00000488759.1:n.*30C>A
NM_000559.2:c.161C>A (HBG1) NP_000550.2:p.Ala54Asp
NM_000559.3:c.161C>A (HBG1) MANE Select NP_000550.2:p.Ala54Asp