Canonical Allele Identifier: CA379263361

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249818G>A , CM000673.2:g.5249818G>A GRCh38
NC_000011.9:g.5271048G>A , CM000673.1:g.5271048G>A GRCh37
NC_000011.8:g.5227624G>A NCBI36
NG_000007.3:g.47798C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330597.5:c.-14C>T (HBG1) MANE Select ENSP00000327431.4:n.-14C>T
ENST00000642908.1:c.316-1331C>T ENSP00000495346.1:n.316-1331C>T
ENST00000647543.1:c.379-1331C>T ENSP00000496470.1:n.379-1331C>T
ENST00000648735.1:n.38C>T (HBG1)
ENST00000330597.3:c.-14C>T (HBG1) ENSP00000327431.3:n.-14C>T
ENST00000620888.4:c.316-1331C>T (HBG2) ENSP00000479637.1:n.316-1331C>T
ENST00000623781.1:c.371G>A ENSP00000485381.1:p.Arg124Lys
ENST00000632727.1:c.-14C>T (HBG1) ENSP00000488759.1:n.-14C>T
NM_000559.2:c.-14C>T (HBG1) NP_000550.2:n.-14C>T
NM_000559.3:c.-14C>T (HBG1) MANE Select NP_000550.2:n.-14C>T