Canonical Allele Identifier: CA125899

Gene: HBA1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.177116G>C , CM000678.2:g.177116G>C	GRCh38
NC_000016.9:g.227115G>C , CM000678.1:g.227115G>C	GRCh37
NC_000016.8:g.167115G>C	NCBI36
NG_000006.1:g.37979G>C
NG_059186.1:g.5466G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320868.9:c.283G>C MANE Select	ENSP00000322421.5:p.Asp95His
ENST00000397797.1:c.187G>C	ENSP00000380899.1:p.Asp63His
ENST00000472694.1:n.419G>C
ENST00000487791.1:n.252G>C
NM_000558.4:c.283G>C	NP_000549.1:p.Asp95His
NM_000558.5:c.283G>C MANE Select	NP_000549.1:p.Asp95His