Canonical Allele Identifier: CA394304499
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2277936-C-T
MyVariant Identifiers: chr16:g.2327937C>T (hg19) chr16:g.2277936C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2277936C>T , CM000678.2:g.2277936C>T GRCh38
NC_000016.9:g.2327937C>T , CM000678.1:g.2327937C>T GRCh37
NC_000016.8:g.2267938C>T NCBI36
NG_011790.1:g.67811G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4852G>A MANE Select ENSP00000301732.5:p.Glu1618Lys
ENST00000301732.9:c.4852G>A ENSP00000301732.5:p.Glu1618Lys
ENST00000382381.7:c.4678G>A ENSP00000371818.3:p.Glu1560Lys
NM_001089.2:c.4852G>A NP_001080.2:p.Glu1618Lys
NM_001089.3:c.4852G>A MANE Select NP_001080.2:p.Glu1618Lys
Search 100 bp 5'
Search 100 bp 3'