Canonical Allele Identifier: CA7770280

Gene: HBA1

Linked Data

• dbSNP Id: rs749104494
• ExAC: 16:227326 C / T
• gnomAD v2: 16-227326-C-T
• gnomAD v3: 16-177327-C-T
• gnomAD v4: 16-177327-C-T
• COSMIC: COSM6205192
• MyVariant Identifiers: chr16:g.227326C>T (hg19) ; chr16:g.177327C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.177327C>T , CM000678.2:g.177327C>T	GRCh38
NC_000016.9:g.227326C>T , CM000678.1:g.227326C>T	GRCh37
NC_000016.8:g.167326C>T	NCBI36
NG_000006.1:g.38190C>T
NG_059186.1:g.5677C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320868.9:c.345C>T MANE Select	ENSP00000322421.5:p.Pro115=
ENST00000397797.1:c.249C>T	ENSP00000380899.1:p.Pro83=
ENST00000472694.1:n.481C>T
NM_000558.4:c.345C>T	NP_000549.1:p.Pro115=
NM_000558.5:c.345C>T MANE Select	NP_000549.1:p.Pro115=