Canonical Allele Identifier: CA394305787
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1333633950
gnomAD v2: 16-2328355-C-T
gnomAD v4: 16-2278354-C-T
MyVariant Identifiers: chr16:g.2328355C>T (hg19) chr16:g.2278354C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278354C>T , CM000678.2:g.2278354C>T GRCh38
NC_000016.9:g.2328355C>T , CM000678.1:g.2328355C>T GRCh37
NC_000016.8:g.2268356C>T NCBI36
NG_011790.1:g.67393G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.4652G>A MANE Select ENSP00000301732.5:p.Arg1551His
ENST00000301732.9:c.4652G>A ENSP00000301732.5:p.Arg1551His
ENST00000382381.7:c.4478G>A ENSP00000371818.3:p.Arg1493His
ENST00000566200.1:n.1173G>A
NM_001089.2:c.4652G>A NP_001080.2:p.Arg1551His
NM_001089.3:c.4652G>A MANE Select NP_001080.2:p.Arg1551His
Search 100 bp 5'
Search 100 bp 3'