Canonical Allele Identifier: CA493165063
Gene: ABCA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2365310C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2315309C>G , CM000678.2:g.2315309C>G GRCh38
NC_000016.9:g.2365310C>G , CM000678.1:g.2365310C>G GRCh37
NC_000016.8:g.2305311C>G NCBI36
NG_011790.1:g.30438G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.1111+1974G>C MANE Select ENSP00000301732.5:n.1111+1974G>C
ENST00000301732.9:c.1111+1974G>C ENSP00000301732.5:n.1111+1974G>C
ENST00000382381.7:c.1111+1974G>C ENSP00000371818.3:n.1111+1974G>C
ENST00000563623.5:n.1674+1974G>C
NM_001089.2:c.1111+1974G>C NP_001080.2:n.1111+1974G>C
NM_001089.3:c.1111+1974G>C MANE Select NP_001080.2:n.1111+1974G>C
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