Canonical Allele Identifier: CA1949584161

Linked Data

dbSNP Id: rs573241527

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249886A>G , CM000673.2:g.5249886A>G GRCh38
NC_000011.9:g.5271116A>G , CM000673.1:g.5271116A>G GRCh37
NC_000011.8:g.5227692A>G NCBI36
NG_000007.3:g.47730T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642908.1:c.316-1399T>C ENSP00000495346.1:n.316-1399T>C
ENST00000647543.1:c.379-1399T>C ENSP00000496470.1:n.379-1399T>C
ENST00000330597.3:c.-82T>C (HBG1) ENSP00000327431.3:n.-82T>C
ENST00000620888.4:c.316-1399T>C (HBG2) ENSP00000479637.1:n.316-1399T>C