Canonical Allele Identifier: CA7840534
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs144354522
ExAC: 16:2335570 G / T
gnomAD v2: 16-2335570-G-T
gnomAD v4: 16-2285569-G-T
MyVariant Identifiers: chr16:g.2335570G>T (hg19) chr16:g.2285569G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2285569G>T , CM000678.2:g.2285569G>T GRCh38
NC_000016.9:g.2335570G>T , CM000678.1:g.2335570G>T GRCh37
NC_000016.8:g.2275571G>T NCBI36
NG_011790.1:g.60178C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.3356C>A MANE Select ENSP00000301732.5:p.Ala1119Glu
ENST00000301732.9:c.3356C>A ENSP00000301732.5:p.Ala1119Glu
ENST00000382381.7:c.3182C>A ENSP00000371818.3:p.Ala1061Glu
NM_001089.2:c.3356C>A NP_001080.2:p.Ala1119Glu
NM_001089.3:c.3356C>A MANE Select NP_001080.2:p.Ala1119Glu
Search 100 bp 5'
Search 100 bp 3'