Canonical Allele Identifier: CA2631188726
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2289385-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2289385G>A , CM000678.2:g.2289385G>A GRCh38
NC_000016.9:g.2339386G>A , CM000678.1:g.2339386G>A GRCh37
NC_000016.8:g.2279387G>A NCBI36
NG_011790.1:g.56362C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.2700+49C>T MANE Select ENSP00000301732.5:n.2700+49C>T
ENST00000301732.9:c.2700+49C>T ENSP00000301732.5:n.2700+49C>T
ENST00000382381.7:c.2526+49C>T ENSP00000371818.3:n.2526+49C>T
ENST00000563623.5:n.3312C>T
NM_001089.2:c.2700+49C>T NP_001080.2:n.2700+49C>T
NM_001089.3:c.2700+49C>T MANE Select NP_001080.2:n.2700+49C>T
Search 100 bp 5'
Search 100 bp 3'