Canonical Allele Identifier: CA394306333

Gene: ABCA3

Linked Data

• dbSNP Id: rs2093650047
• MyVariant Identifiers: chr16:g.2328461T>C (hg19) ; chr16:g.2278460T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278460T>C , CM000678.2:g.2278460T>C	GRCh38
NC_000016.9:g.2328461T>C , CM000678.1:g.2328461T>C	GRCh37
NC_000016.8:g.2268462T>C	NCBI36
NG_011790.1:g.67287A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4548-2A>G MANE Select	ENSP00000301732.5:n.4548-2A>G
ENST00000301732.9:c.4548-2A>G	ENSP00000301732.5:n.4548-2A>G
ENST00000382381.7:c.4374-2A>G	ENSP00000371818.3:n.4374-2A>G
ENST00000566200.1:n.1069-2A>G
NM_001089.2:c.4548-2A>G	NP_001080.2:n.4548-2A>G
NM_001089.3:c.4548-2A>G MANE Select	NP_001080.2:n.4548-2A>G