Canonical Allele Identifier: CA394304520
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs2093649142
gnomAD v3: 16-2277939-T-G
gnomAD v4: 16-2277939-T-G
MyVariant Identifiers: chr16:g.2327940T>G (hg19) chr16:g.2277939T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2277939T>G , CM000678.2:g.2277939T>G GRCh38
NC_000016.9:g.2327940T>G , CM000678.1:g.2327940T>G GRCh37
NC_000016.8:g.2267941T>G NCBI36
NG_011790.1:g.67808A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4849A>C MANE Select ENSP00000301732.5:p.Ser1617Arg
ENST00000301732.9:c.4849A>C ENSP00000301732.5:p.Ser1617Arg
ENST00000382381.7:c.4675A>C ENSP00000371818.3:p.Ser1559Arg
NM_001089.2:c.4849A>C NP_001080.2:p.Ser1617Arg
NM_001089.3:c.4849A>C MANE Select NP_001080.2:p.Ser1617Arg
Search 100 bp 5'
Search 100 bp 3'