Canonical Allele Identifier: CA394306225
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2278438-A-G
MyVariant Identifiers: chr16:g.2328439A>G (hg19) chr16:g.2278438A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278438A>G , CM000678.2:g.2278438A>G GRCh38
NC_000016.9:g.2328439A>G , CM000678.1:g.2328439A>G GRCh37
NC_000016.8:g.2268440A>G NCBI36
NG_011790.1:g.67309T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4568T>C MANE Select ENSP00000301732.5:p.Leu1523Pro
ENST00000301732.9:c.4568T>C ENSP00000301732.5:p.Leu1523Pro
ENST00000382381.7:c.4394T>C ENSP00000371818.3:p.Leu1465Pro
ENST00000566200.1:n.1089T>C
NM_001089.2:c.4568T>C NP_001080.2:p.Leu1523Pro
NM_001089.3:c.4568T>C MANE Select NP_001080.2:p.Leu1523Pro
Search 100 bp 5'
Search 100 bp 3'