Canonical Allele Identifier: CA2731763235
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs2141688502
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278749T>C , CM000678.2:g.2278749T>C GRCh38
NC_000016.9:g.2328750T>C , CM000678.1:g.2328750T>C GRCh37
NC_000016.8:g.2268751T>C NCBI36
NG_011790.1:g.66998A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4547+194A>G MANE Select ENSP00000301732.5:n.4547+194A>G
ENST00000301732.9:c.4547+194A>G ENSP00000301732.5:n.4547+194A>G
ENST00000382381.7:c.4373+194A>G ENSP00000371818.3:n.4373+194A>G
ENST00000566200.1:n.1068+194A>G
NM_001089.2:c.4547+194A>G NP_001080.2:n.4547+194A>G
NM_001089.3:c.4547+194A>G MANE Select NP_001080.2:n.4547+194A>G
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