Canonical Allele Identifier: CA2631186142
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2285400-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2285400G>T , CM000678.2:g.2285400G>T GRCh38
NC_000016.9:g.2335401G>T , CM000678.1:g.2335401G>T GRCh37
NC_000016.8:g.2275402G>T NCBI36
NG_011790.1:g.60347C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.3483+42C>A MANE Select ENSP00000301732.5:n.3483+42C>A
ENST00000301732.9:c.3483+42C>A ENSP00000301732.5:n.3483+42C>A
ENST00000382381.7:c.3309+42C>A ENSP00000371818.3:n.3309+42C>A
NM_001089.2:c.3483+42C>A NP_001080.2:n.3483+42C>A
NM_001089.3:c.3483+42C>A MANE Select NP_001080.2:n.3483+42C>A
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