Canonical Allele Identifier: CA493167414

Gene: ABCA3

Linked Data

• gnomAD v4: 16-2317741-G-A
• MyVariant Identifiers: chr16:g.2367742G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2317741G>A , CM000678.2:g.2317741G>A	GRCh38
NC_000016.9:g.2367742G>A , CM000678.1:g.2367742G>A	GRCh37
NC_000016.8:g.2307743G>A	NCBI36
NG_011790.1:g.28006C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.897C>T MANE Select	ENSP00000301732.5:p.Leu299=
ENST00000301732.9:c.897C>T	ENSP00000301732.5:p.Leu299=
ENST00000382381.7:c.897C>T	ENSP00000371818.3:p.Leu299=
ENST00000563623.5:n.1460C>T
NM_001089.2:c.897C>T	NP_001080.2:p.Leu299=
NM_001089.3:c.897C>T MANE Select	NP_001080.2:p.Leu299=