Canonical Allele Identifier: CA394316888
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2285555-C-T
MyVariant Identifiers: chr16:g.2335556C>T (hg19) chr16:g.2285555C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2285555C>T , CM000678.2:g.2285555C>T GRCh38
NC_000016.9:g.2335556C>T , CM000678.1:g.2335556C>T GRCh37
NC_000016.8:g.2275557C>T NCBI36
NG_011790.1:g.60192G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.3370G>A MANE Select ENSP00000301732.5:p.Ala1124Thr
ENST00000301732.9:c.3370G>A ENSP00000301732.5:p.Ala1124Thr
ENST00000382381.7:c.3196G>A ENSP00000371818.3:p.Ala1066Thr
NM_001089.2:c.3370G>A NP_001080.2:p.Ala1124Thr
NM_001089.3:c.3370G>A MANE Select NP_001080.2:p.Ala1124Thr
Search 100 bp 5'
Search 100 bp 3'