Canonical Allele Identifier: CA973783438
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs2093650423
gnomAD v3: 16-2278638-C-A
gnomAD v4: 16-2278638-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278638C>A , CM000678.2:g.2278638C>A GRCh38
NC_000016.9:g.2328639C>A , CM000678.1:g.2328639C>A GRCh37
NC_000016.8:g.2268640C>A NCBI36
NG_011790.1:g.67109G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4548-180G>T MANE Select ENSP00000301732.5:n.4548-180G>T
ENST00000301732.9:c.4548-180G>T ENSP00000301732.5:n.4548-180G>T
ENST00000382381.7:c.4374-180G>T ENSP00000371818.3:n.4374-180G>T
ENST00000566200.1:n.1069-180G>T
NM_001089.2:c.4548-180G>T NP_001080.2:n.4548-180G>T
NM_001089.3:c.4548-180G>T MANE Select NP_001080.2:n.4548-180G>T
Search 100 bp 5'
Search 100 bp 3'