Canonical Allele Identifier: CA2631188373
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2278543-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278543C>T , CM000678.2:g.2278543C>T GRCh38
NC_000016.9:g.2328544C>T , CM000678.1:g.2328544C>T GRCh37
NC_000016.8:g.2268545C>T NCBI36
NG_011790.1:g.67204G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4548-85G>A MANE Select ENSP00000301732.5:n.4548-85G>A
ENST00000301732.9:c.4548-85G>A ENSP00000301732.5:n.4548-85G>A
ENST00000382381.7:c.4374-85G>A ENSP00000371818.3:n.4374-85G>A
ENST00000566200.1:n.1069-85G>A
NM_001089.2:c.4548-85G>A NP_001080.2:n.4548-85G>A
NM_001089.3:c.4548-85G>A MANE Select NP_001080.2:n.4548-85G>A
Search 100 bp 5'
Search 100 bp 3'