Canonical Allele Identifier: CA7840330
Gene: ABCA3 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.2283324G>A
GRCh37 chr16:g.2333325G>A
gnomAD v2:
16:2333325 G / A
gnomAD v3:
16:2283324 G / A
gnomAD v4:
chr16-2283324-G-A
Joint Max Group AF 0.00003503 (NFE)
Genomes Max Group AF 0.00005842 (NFE)
Exomes Max Group AF 0.00003085 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2283324G>A , CM000678.2:g.2283324G>A GRCh38
NC_000016.9:g.2333325G>A , CM000678.1:g.2333325G>A GRCh37
NC_000016.8:g.2273326G>A NCBI36
NG_011790.1:g.62423C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.3897C>T MANE Select ENSP00000301732.5:p.Ser1299=
ENST00000301732.9:c.3897C>T ENSP00000301732.5:p.Ser1299=
ENST00000382381.7:c.3723C>T ENSP00000371818.3:p.Ser1241=
ENST00000566200.1:n.418C>T
ENST00000569062.1:n.649C>T
NM_001089.2:c.3897C>T NP_001080.2:p.Ser1299=
NM_001089.3:c.3897C>T MANE Select NP_001080.2:p.Ser1299=
Search 100 bp 5'
Search 100 bp 3'