Canonical Allele Identifier: CA2202152992
Gene: ABCA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2289378C= , CM000678.2:g.2289378C= GRCh38
NC_000016.9:g.2339379C= , CM000678.1:g.2339379C= GRCh37
NC_000016.8:g.2279380C= NCBI36
NG_011790.1:g.56369G=

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.2700+56G= MANE Select ENSP00000301732.5:n.2700+56G=
ENST00000301732.9:c.2700+56G= ENSP00000301732.5:n.2700+56G=
ENST00000382381.7:c.2526+56G= ENSP00000371818.3:n.2526+56G=
ENST00000563623.5:n.3319G=
NM_001089.2:c.2700+56G= NP_001080.2:n.2700+56G=
NM_001089.3:c.2700+56G= MANE Select NP_001080.2:n.2700+56G=
Search 100 bp 5'
Search 100 bp 3'