Canonical Allele Identifier: CA394306135
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs375910092
gnomAD v3: 16-2278416-G-C
gnomAD v4: 16-2278416-G-C
MyVariant Identifiers: chr16:g.2328417G>C (hg19) chr16:g.2278416G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278416G>C , CM000678.2:g.2278416G>C GRCh38
NC_000016.9:g.2328417G>C , CM000678.1:g.2328417G>C GRCh37
NC_000016.8:g.2268418G>C NCBI36
NG_011790.1:g.67331C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4590C>G MANE Select ENSP00000301732.5:p.Ile1530Met
ENST00000301732.9:c.4590C>G ENSP00000301732.5:p.Ile1530Met
ENST00000382381.7:c.4416C>G ENSP00000371818.3:p.Ile1472Met
ENST00000566200.1:n.1111C>G
NM_001089.2:c.4590C>G NP_001080.2:p.Ile1530Met
NM_001089.3:c.4590C>G MANE Select NP_001080.2:p.Ile1530Met
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