Canonical Allele Identifier: CA493093230
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1465234833
gnomAD v2: 16-2328351-C-T
gnomAD v4: 16-2278350-C-T
MyVariant Identifiers: chr16:g.2328351C>T (hg19) chr16:g.2278350C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278350C>T , CM000678.2:g.2278350C>T GRCh38
NC_000016.9:g.2328351C>T , CM000678.1:g.2328351C>T GRCh37
NC_000016.8:g.2268352C>T NCBI36
NG_011790.1:g.67397G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.4656G>A MANE Select ENSP00000301732.5:p.Leu1552=
ENST00000301732.9:c.4656G>A ENSP00000301732.5:p.Leu1552=
ENST00000382381.7:c.4482G>A ENSP00000371818.3:p.Leu1494=
ENST00000566200.1:n.1177G>A
NM_001089.2:c.4656G>A NP_001080.2:p.Leu1552=
NM_001089.3:c.4656G>A MANE Select NP_001080.2:p.Leu1552=
Search 100 bp 5'
Search 100 bp 3'