Canonical Allele Identifier: CA393995535
Gene: HBA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177098G>C , CM000678.2:g.177098G>C GRCh38
NC_000016.9:g.227097G>C , CM000678.1:g.227097G>C GRCh37
NC_000016.8:g.167097G>C NCBI36
NG_000006.1:g.37961G>C
NG_059186.1:g.5448G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.265G>C MANE Select ENSP00000322421.5:p.Ala89Pro
ENST00000397797.1:c.169G>C ENSP00000380899.1:p.Ala57Pro
ENST00000472694.1:n.401G>C
ENST00000487791.1:n.234G>C
NM_000558.4:c.265G>C NP_000549.1:p.Ala89Pro
NM_000558.5:c.265G>C MANE Select NP_000549.1:p.Ala89Pro