Canonical Allele Identifier: CA276840300

Gene: ABCA3

Linked Data

• dbSNP Id: rs972101190
• MyVariant Identifiers: chr16:g.2365183C>A (hg19) ; chr16:g.2315182C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2315182C>A , CM000678.2:g.2315182C>A	GRCh38
NC_000016.9:g.2365183C>A , CM000678.1:g.2365183C>A	GRCh37
NC_000016.8:g.2305184C>A	NCBI36
NG_011790.1:g.30565G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.1111+2101G>T MANE Select	ENSP00000301732.5:n.1111+2101G>T
ENST00000301732.9:c.1111+2101G>T	ENSP00000301732.5:n.1111+2101G>T
ENST00000382381.7:c.1111+2101G>T	ENSP00000371818.3:n.1111+2101G>T
ENST00000563623.5:n.1674+2101G>T
NM_001089.2:c.1111+2101G>T	NP_001080.2:n.1111+2101G>T
NM_001089.3:c.1111+2101G>T MANE Select	NP_001080.2:n.1111+2101G>T