Canonical Allele Identifier: CA394316651
Gene: ABCA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2335510G>T (hg19) chr16:g.2285509G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2285509G>T , CM000678.2:g.2285509G>T GRCh38
NC_000016.9:g.2335510G>T , CM000678.1:g.2335510G>T GRCh37
NC_000016.8:g.2275511G>T NCBI36
NG_011790.1:g.60238C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.3416C>A MANE Select ENSP00000301732.5:p.Ala1139Asp
ENST00000301732.9:c.3416C>A ENSP00000301732.5:p.Ala1139Asp
ENST00000382381.7:c.3242C>A ENSP00000371818.3:p.Ala1081Asp
NM_001089.2:c.3416C>A NP_001080.2:p.Ala1139Asp
NM_001089.3:c.3416C>A MANE Select NP_001080.2:p.Ala1139Asp
Search 100 bp 5'
Search 100 bp 3'