Canonical Allele Identifier: CA719143594
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1413595756
gnomAD v3: 16-2299599-T-C
gnomAD v4: 16-2299599-T-C
MyVariant Identifiers: chr16:g.2349600T>C (hg19) chr16:g.2299599T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2299599T>C , CM000678.2:g.2299599T>C GRCh38
NC_000016.9:g.2349600T>C , CM000678.1:g.2349600T>C GRCh37
NC_000016.8:g.2289601T>C NCBI36
NG_011790.1:g.46148A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.1612-67A>G MANE Select ENSP00000301732.5:n.1612-67A>G
ENST00000301732.9:c.1612-67A>G ENSP00000301732.5:n.1612-67A>G
ENST00000382381.7:c.1438-67A>G ENSP00000371818.3:n.1438-67A>G
ENST00000563623.5:n.2175-67A>G
NM_001089.2:c.1612-67A>G NP_001080.2:n.1612-67A>G
NM_001089.3:c.1612-67A>G MANE Select NP_001080.2:n.1612-67A>G
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