Canonical Allele Identifier: CA2631187591
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2278272-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278272C>A , CM000678.2:g.2278272C>A GRCh38
NC_000016.9:g.2328273C>A , CM000678.1:g.2328273C>A GRCh37
NC_000016.8:g.2268274C>A NCBI36
NG_011790.1:g.67475G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4718+16G>T MANE Select ENSP00000301732.5:n.4718+16G>T
ENST00000301732.9:c.4718+16G>T ENSP00000301732.5:n.4718+16G>T
ENST00000382381.7:c.4544+16G>T ENSP00000371818.3:n.4544+16G>T
NM_001089.2:c.4718+16G>T NP_001080.2:n.4718+16G>T
NM_001089.3:c.4718+16G>T MANE Select NP_001080.2:n.4718+16G>T
Search 100 bp 5'
Search 100 bp 3'