Canonical Allele Identifier: CA2631189763
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2299667-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2299667A>G , CM000678.2:g.2299667A>G GRCh38
NC_000016.9:g.2349668A>G , CM000678.1:g.2349668A>G GRCh37
NC_000016.8:g.2289669A>G NCBI36
NG_011790.1:g.46080T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.1612-135T>C MANE Select ENSP00000301732.5:n.1612-135T>C
ENST00000301732.9:c.1612-135T>C ENSP00000301732.5:n.1612-135T>C
ENST00000382381.7:c.1438-135T>C ENSP00000371818.3:n.1438-135T>C
ENST00000563623.5:n.2175-135T>C
NM_001089.2:c.1612-135T>C NP_001080.2:n.1612-135T>C
NM_001089.3:c.1612-135T>C MANE Select NP_001080.2:n.1612-135T>C
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