Canonical Allele Identifier: CA394304522
Gene: ABCA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2327941C>G (hg19) chr16:g.2277940C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2277940C>G , CM000678.2:g.2277940C>G GRCh38
NC_000016.9:g.2327941C>G , CM000678.1:g.2327941C>G GRCh37
NC_000016.8:g.2267942C>G NCBI36
NG_011790.1:g.67807G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.4848G>C MANE Select ENSP00000301732.5:p.Gln1616His
ENST00000301732.9:c.4848G>C ENSP00000301732.5:p.Gln1616His
ENST00000382381.7:c.4674G>C ENSP00000371818.3:p.Gln1558His
NM_001089.2:c.4848G>C NP_001080.2:p.Gln1616His
NM_001089.3:c.4848G>C MANE Select NP_001080.2:p.Gln1616His
Search 100 bp 5'
Search 100 bp 3'