Canonical Allele Identifier: CA620708314
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs948301286
gnomAD v2: 16-2328269-C-T
gnomAD v4: 16-2278268-C-T
MyVariant Identifiers: chr16:g.2328269C>T (hg19) chr16:g.2278268C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278268C>T , CM000678.2:g.2278268C>T GRCh38
NC_000016.9:g.2328269C>T , CM000678.1:g.2328269C>T GRCh37
NC_000016.8:g.2268270C>T NCBI36
NG_011790.1:g.67479G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4718+20G>A MANE Select ENSP00000301732.5:n.4718+20G>A
ENST00000301732.9:c.4718+20G>A ENSP00000301732.5:n.4718+20G>A
ENST00000382381.7:c.4544+20G>A ENSP00000371818.3:n.4544+20G>A
NM_001089.2:c.4718+20G>A NP_001080.2:n.4718+20G>A
NM_001089.3:c.4718+20G>A MANE Select NP_001080.2:n.4718+20G>A
Search 100 bp 5'
Search 100 bp 3'