Canonical Allele Identifier: CA973584419
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1902140935
gnomAD v3: 16-176683-C-T
gnomAD v4: 16-176683-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176683C>T , CM000678.2:g.176683C>T GRCh38
NC_000016.9:g.226682C>T , CM000678.1:g.226682C>T GRCh37
NC_000016.8:g.166682C>T NCBI36
NG_000006.1:g.37546C>T
NG_059186.1:g.5033C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.-34C>T MANE Select ENSP00000322421.5:n.-34C>T
NM_000558.4:c.-34C>T NP_000549.1:n.-34C>T
NM_000558.5:c.-34C>T MANE Select NP_000549.1:n.-34C>T