Canonical Allele Identifier: CA276825439

Gene: ABCA3

Linked Data

• dbSNP Id: rs553750231
• MyVariant Identifiers: chr16:g.2339364T>A (hg19) ; chr16:g.2289363T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2289363T>A , CM000678.2:g.2289363T>A	GRCh38
NC_000016.9:g.2339364T>A , CM000678.1:g.2339364T>A	GRCh37
NC_000016.8:g.2279365T>A	NCBI36
NG_011790.1:g.56384A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.2700+71A>T MANE Select	ENSP00000301732.5:n.2700+71A>T
ENST00000301732.9:c.2700+71A>T	ENSP00000301732.5:n.2700+71A>T
ENST00000382381.7:c.2526+71A>T	ENSP00000371818.3:n.2526+71A>T
ENST00000563623.5:n.3334A>T
NM_001089.2:c.2700+71A>T	NP_001080.2:n.2700+71A>T
NM_001089.3:c.2700+71A>T MANE Select	NP_001080.2:n.2700+71A>T