Canonical Allele Identifier: CA276820646
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1018087789
gnomAD v2: 16-2328352-A-G
gnomAD v4: 16-2278351-A-G
MyVariant Identifiers: chr16:g.2328352A>G (hg19) chr16:g.2278351A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278351A>G , CM000678.2:g.2278351A>G GRCh38
NC_000016.9:g.2328352A>G , CM000678.1:g.2328352A>G GRCh37
NC_000016.8:g.2268353A>G NCBI36
NG_011790.1:g.67396T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.4655T>C MANE Select ENSP00000301732.5:p.Leu1552Pro
ENST00000301732.9:c.4655T>C ENSP00000301732.5:p.Leu1552Pro
ENST00000382381.7:c.4481T>C ENSP00000371818.3:p.Leu1494Pro
ENST00000566200.1:n.1176T>C
NM_001089.2:c.4655T>C NP_001080.2:p.Leu1552Pro
NM_001089.3:c.4655T>C MANE Select NP_001080.2:p.Leu1552Pro
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