Canonical Allele Identifier: CA2202145986
Gene: ABCA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2277836G= , CM000678.2:g.2277836G= GRCh38
NC_000016.9:g.2327837G= , CM000678.1:g.2327837G= GRCh37
NC_000016.8:g.2267838G= NCBI36
NG_011790.1:g.67911C=

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.4909+43C= MANE Select ENSP00000301732.5:n.4909+43C=
ENST00000301732.9:c.4909+43C= ENSP00000301732.5:n.4909+43C=
ENST00000382381.7:c.4735+43C= ENSP00000371818.3:n.4735+43C=
NM_001089.2:c.4909+43C= NP_001080.2:n.4909+43C=
NM_001089.3:c.4909+43C= MANE Select NP_001080.2:n.4909+43C=
Search 100 bp 5'
Search 100 bp 3'