Canonical Allele Identifier: CA620708409
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs540923609
gnomAD v2: 16-2335404-G-T
gnomAD v4: 16-2285403-G-T
MyVariant Identifiers: chr16:g.2335404G>T (hg19) chr16:g.2285403G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2285403G>T , CM000678.2:g.2285403G>T GRCh38
NC_000016.9:g.2335404G>T , CM000678.1:g.2335404G>T GRCh37
NC_000016.8:g.2275405G>T NCBI36
NG_011790.1:g.60344C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.3483+39C>A MANE Select ENSP00000301732.5:n.3483+39C>A
ENST00000301732.9:c.3483+39C>A ENSP00000301732.5:n.3483+39C>A
ENST00000382381.7:c.3309+39C>A ENSP00000371818.3:n.3309+39C>A
NM_001089.2:c.3483+39C>A NP_001080.2:n.3483+39C>A
NM_001089.3:c.3483+39C>A MANE Select NP_001080.2:n.3483+39C>A
Search 100 bp 5'
Search 100 bp 3'