Canonical Allele Identifier: CA7770283
Gene: HBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.177340C>T
GRCh37 chr16:g.227339C>T
Revel Score:
ENST00000320868 (MANE Select) 0.720
ENST00000397797 0.720
gnomAD v2:
16:227339 C / T
gnomAD v3:
16:177340 C / T
gnomAD v4:
chr16-177340-C-T
Joint Max Group AF 0.00065415 (MID)
Genomes Max Group AF 0.00002261 (AMR)
Exomes Max Group AF 0.00068985 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177340C>T , CM000678.2:g.177340C>T GRCh38
NC_000016.9:g.227339C>T , CM000678.1:g.227339C>T GRCh37
NC_000016.8:g.167339C>T NCBI36
NG_000006.1:g.38203C>T
NG_059186.1:g.5690C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.358C>T MANE Select ENSP00000322421.5:p.Pro120Ser
ENST00000397797.1:c.262C>T ENSP00000380899.1:p.Pro88Ser
ENST00000472694.1:n.494C>T
NM_000558.4:c.358C>T NP_000549.1:p.Pro120Ser
NM_000558.5:c.358C>T MANE Select NP_000549.1:p.Pro120Ser
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